{ "slug": "why-is-there-a-bump-on-my-butthole", "question": "Why is there a bump on my butt or anus?", "shortTitle": "Bump Near the Anus or Buttocks", "clinicalQuestion": "In people who notice a new lump near the anus, in the gluteal cleft, or on the buttocks, what are the common underlying causes (hemorrhoid, perianal skin tag, pilonidal cyst, anal wart, perianal abscess, folliculitis) and what features (location, pain, size, bleeding, duration) distinguish them?", "pico": { "population": "Adults and adolescents who notice a new bump on the buttocks, anus, or gluteal cleft", "intervention": "Clinical examination and self-assessment of the lump's features (location, tenderness, size, bleeding)", "comparator": "No comparator; this is a diagnostic/differential question rather than a treatment comparison", "outcomes": [ "Identified underlying diagnosis (e.g., hemorrhoid, skin tag, pilonidal cyst, anal wart, abscess, folliculitis)", "Presence of pain or tenderness", "Presence of bleeding", "Change in size or resolution over time", "Recurrence after initial resolution", "Need for drainage or surgical removal" ] }, "category": "anorectal", "relatedConditions": [ "hemorrhoids", "pilonidal-cyst", "anal-skin-tags", "anal-warts", "perianal-abscess" ], "relatedTreatments": [], "relatedEvidence": [], "bottomLine": { "verdict": "A bump near your anus or in your butt crease usually has a simple, treatable cause — but the only evidence available is case reports, and some of those describe serious conditions that were first mistaken for an ordinary bump.", "detail": "No clinical trials have studied why these bumps happen or compared treatments — the evidence is almost entirely single-patient case reports and small retrospective studies, and they often disagree with each other, so confidence in any conclusion here is very low. Several case reports describe bumps assumed to be hemorrhoids, cysts, or abscesses that turned out, on biopsy or further testing, to be cancer, a severe infection, or other serious disease. That doesn't mean a bump is usually serious — it means a lump that is new, growing, bleeding, or not improving should be examined rather than assumed.", "studyIds": [ "pmid:40952828", "pmid:35578943", "pmid:33516222", "pmid:33318271", "pmid:31565179", "pmid:31368913", "pmid:28873483", "pmid:27857005", "pmid:27734798", "pmid:26712260", "pmid:25969499", "pmid:25308220", "pmid:23050944" ] }, "strength": { "level": "very-low", "why": "Only observational evidence addresses this question (5 studies). The studies disagree with one another, so the overall certainty is lower than any single one of them.", "override": null }, "direction": { "level": "harm-signal", "why": "6 studies reported harm or tissue damage, including laboratory evidence.", "override": null }, "counts": { "recordsRetrieved": 665, "recordsScreened": 200, "included": 133, "rcts": 0, "systematicReviews": 3, "observational": 25, "participants": 7367, "yearFrom": 2012, "yearTo": 2026, "registeredTrialsWithoutResults": 0 }, "excluded": [], "outcomes": [ { "name": "Which condition is actually causing the bump", "status": "insufficient", "note": "Only one small study tried to measure how often each cause explains a bump — in 59 people with perianal itching, fistula was most common, then abscess, pilonidal sinus, and hemorrhoids. Everything else in this review is single-patient reports of rare causes, so there's no reliable overall breakdown for the general population.", "studyIds": [ "pmid:40952828" ] }, { "name": "Whether pain or tenderness tells you the cause", "status": "not-studied", "note": "No study systematically compared pain across causes. Case reports describe both painful and painless bumps for almost every diagnosis, including cancer, so pain alone does not reliably point to one cause over another.", "studyIds": [ "pmid:28284459", "pmid:24444268", "pmid:40275791" ] }, { "name": "Whether bleeding tells you the cause", "status": "insufficient", "note": "Bleeding was reported with both harmless and serious causes in these case reports, including anal cancers that were first mistaken for hemorrhoids. On its own, bleeding does not reliably separate a minor cause from a serious one.", "studyIds": [ "pmid:27734798", "pmid:28873483", "pmid:27857005", "pmid:36402562" ] }, { "name": "Whether the bump shrinks or goes away by itself", "status": "not-studied", "note": "No study followed people with a new, untreated bump to see how often it resolves on its own without any treatment.", "studyIds": [] }, { "name": "Recurrence after the bump is treated or removed", "status": "insufficient", "note": "Single case reports describe no recurrence after surgery for specific conditions like a fistula or a growth, sometimes followed for months or a couple of years, but no study compared recurrence rates across different causes or treatments.", "studyIds": [ "pmid:42231443", "pmid:41239594", "pmid:40275791", "pmid:32264858", "pmid:26937152" ] }, { "name": "Whether drainage or surgery is needed", "status": "not-studied", "note": "No trial compared surgery or drainage against simply watching a bump. In the case reports, treatment was chosen to match whatever the final diagnosis turned out to be, not tested against an alternative.", "studyIds": [] }, { "name": "Risk that the bump is something more serious than it looks", "status": "possible-harm", "note": "Multiple case reports describe bumps first assumed to be hemorrhoids, an abscess, or a cyst that were later found to be cancer, a dangerous infection, or a malignant change in long-standing tissue, sometimes after a diagnostic delay.", "studyIds": [ "pmid:35578943", "pmid:33318271", "pmid:31565179", "pmid:31368913", "pmid:28873483", "pmid:27857005", "pmid:27734798", "pmid:26712260", "pmid:25969499", "pmid:25308220", "pmid:23050944", "pmid:23268160" ] } ], "benefits": [ { "text": "In small studies, imaging such as MRI or ultrasound correctly told apart specific causes when the diagnosis was unclear from examination alone — for example, separating a pus-filled abscess from simple inflammation, or identifying a pilonidal or presacral cyst that had been mistaken for something else.", "studyIds": [ "pmid:42191223", "pmid:41800580", "pmid:40199281", "pmid:25612946", "pmid:24915940", "pmid:23175339" ] }, { "text": "Case reports describe several infections that cause a perianal or gluteal lump — including tuberculosis, histoplasmosis, a pinworm (Enterobius) infection, and Listeria — that resolved fully once treated with the right antibiotic, antifungal, or antiparasitic medicine.", "studyIds": [ "pmid:41871566", "pmid:41733318", "pmid:31761896", "pmid:25466213" ] }, { "text": "A careful history and physical exam were described as able to distinguish common conditions like hemorrhoids, abscess, fistula, fissure, and genital warts in most cases, without needing imaging.", "studyIds": [ "pmid:32308242", "pmid:31894930", "pmid:27027745" ] } ], "limitations": [ { "text": "Almost every study here is a single-patient case report of low or very low quality — useful for showing what is possible, but not for saying how common any cause is in someone like you.", "studyIds": [ "pmid:42481139", "pmid:42231443", "pmid:41871566", "pmid:41800580", "pmid:41733318", "pmid:41239594", "pmid:40275791", "pmid:32434434", "pmid:28284459", "pmid:24444268" ] }, { "text": "The one study that counted causes in real patients only looked at 59 people with itching (not bumps generally) at a single clinic over six months, so its breakdown of causes may not apply to you.", "studyIds": [ "pmid:40952828" ] }, { "text": "Studies that looked at which fistula features point to Crohn's disease versus an ordinary (cryptoglandular) fistula did not fully agree: one study found complex or high fistulas were far more common in Crohn's disease (40.4% vs 4.8%), and another found intramural abscesses and complex tracts were strong predictors of Crohn's disease, while a third study found rectal inflammation was more common in Crohn's disease (29.2% vs 6.7%) but fistula type and abscess rates were similar between Crohn's and non-Crohn's groups.", "studyIds": [ "pmid:32026703", "pmid:41455178", "pmid:27885389" ] } ], "risks": [ { "text": "Case reports describe anal cancer, melanoma, sarcoma, and other serious growths that were initially diagnosed as hemorrhoids, a cyst, or an abscess, sometimes delaying the correct treatment.", "studyIds": [ "pmid:35578943", "pmid:33318271", "pmid:31565179", "pmid:31368913", "pmid:28873483", "pmid:27857005", "pmid:27734798", "pmid:26712260", "pmid:25969499", "pmid:25308220", "pmid:23050944" ], "severity": "serious" }, { "text": "A few case reports describe serious infections — including tuberculosis and a rapidly spreading infection called Fournier's gangrene — presenting as a swelling or abscess near the anus or buttock.", "studyIds": [ "pmid:41201735", "pmid:28609809", "pmid:35578943" ], "severity": "serious" }, { "text": "One case report describes a death from surgical complications after an operation for a rare cancer that had been growing, undetected, inside a long-standing fistula.", "studyIds": [ "pmid:23268160" ], "severity": "serious" }, { "text": "In these case reports, surgery or drainage to find and treat the cause of a lump usually worked, but sometimes the true cause was only discovered during the operation itself despite earlier imaging, and one patient needed several previous surgeries before a hidden cyst behind the rectum was finally found and removed; beyond this diagnostic delay, the reports did not describe other complications from the procedures.", "studyIds": [ "pmid:40199281", "pmid:25612946", "pmid:29442064" ], "severity": "minor" } ], "whyPeopleTryIt": [ { "text": "Hemorrhoids and skin tags are common and usually harmless, so it's natural to assume any new bump in that area is the same thing." }, { "text": "Embarrassment about examining or discussing the anal area can lead people to wait rather than get a new bump checked." }, { "text": "A bump that doesn't hurt feels less urgent, even though painlessness does not rule out something serious." }, { "text": "Online searches and forums often reassure people that butt bumps are 'probably nothing,' which can delay getting a proper exam." } ], "keyStudies": [ "pmid:40952828", "pmid:33516222", "pmid:25308220", "pmid:26332535", "pmid:24702041", "pmid:23617486", "pmid:31368913", "pmid:23050944" ], "studies": [ { "id": "pmid:42481139", "pmid": "42481139", "doi": "10.1136/bcr-2025-269806", "nctId": null, "pmcid": "PMC13408737", "title": "Langerhans cell histiocytosis in the adult lower gastrointestinal tract", "firstAuthor": "Yang", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "an older woman (early 80s) with a persistent anal fissure", "intervention": "chemotherapy with cladribine for Langerhans cell histiocytosis affecting the colon and anus", "comparator": "none (no comparison treatment)", "primaryOutcome": "resolution of the Langerhans cell histiocytosis symptoms and lesions", "result": "complete remission of the disease after cladribine treatment", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "It is a single patient case report, so it cannot show how the treatment works in general.", "directness": "direct", "limitations": "Only one patient was described, so the findings cannot be generalized.", "followUp": "", "plainFinding": "Rare disease, cleared with chemotherapy.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/42481139/", "sourceText": "A female in her early 80s presented with chronic anal fissures which were unresponsive to conservative therapies. Examination was concerning for possible perianal Crohn's disease, but subsequent colonoscopy and biopsies revealed Langerhans cell histiocytosis (LCH) involving the colon and anus, diagnosed per 2022 WHO Classification of Haematolymphoid Tumours criteria and confirmed by BRAF V600E mutation. Systemic staging identified two unrelated malignancies of the breast and kidney. The patient was treated with cladribine as systemic chemotherapy, resulting in complete remission of LCH symptoms and lesions.This case illustrates key diagnostic and therapeutic considerations for clinicians: LCH can mimic inflammatory bowel disease and should be included in the differential for atypical or refractory perianal disease, especially in older adults. Histological confirmation and molecular profiling are essential for accurate diagnosis and treatment planning. Additionally, cladribine is a well-tolerated and effective option for adult LCH with gastrointestinal tract involvement. Early recognition and systemic staging are critical to guide therapy and identify potential coexisting malignancies.", "provenance": [ { "field": "population", "quote": "A female in her early 80s presented with chronic anal fissures" }, { "field": "intervention", "quote": "The patient was treated with cladribine as systemic chemotherapy" }, { "field": "comparator", "quote": "The patient was treated with cladribine as systemic chemotherapy, resulting in complete remission of LCH symptoms and lesions." }, { "field": "primaryOutcome", "quote": "resulting in complete remission of LCH symptoms and lesions" }, { "field": "result", "quote": "resulting in complete remission of LCH symptoms and lesions" }, { "field": "n", "quote": "A female in her early 80s presented with chronic anal fissures" } ] }, { "id": "pmid:42231443", "pmid": "42231443", "doi": "10.1186/s12981-026-00889-y", "nctId": null, "pmcid": "PMC13520450", "title": "Giant condyloma acuminatum in a patient with HIV infection: a case report", "firstAuthor": "Wang", "multipleAuthors": true, "journal": "AIDS Res Ther", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "a 24-year-old man with HIV infection and poor adherence to HIV medication, with a growing lump near the anus", "intervention": "surgical removal of the mass plus improved HIV treatment and antibiotics", "comparator": "no comparison group (single patient case report)", "primaryOutcome": "healing of the wound and whether the lump came back", "result": "wound fully healed and no recurrence at 3 months after surgery", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient's case report, so it cannot show whether this treatment works in general.", "directness": "direct", "limitations": "Only one patient, short follow-up of 3 months, no comparison group", "followUp": "3-month follow-up", "plainFinding": "HPV-related growth, cleared by surgery.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/42231443/", "sourceText": "BACKGROUND: Giant condyloma acuminatum (GCA), also known as Buschke-Löwenstein tumor, is a rare tumor-like lesion associated with human papillomavirus (HPV) infection. Although it is histologically benign, it behaves in a locally aggressive manner. GCA most commonly involves the external genitalia, perianal region, perineum, and rectum. It occurs more frequently in immunocompromised individuals, particularly those with advanced or suboptimally controlled human immunodeficiency virus (HIV) infection. Here, we report a case of perianal GCA in an HIV-infected patient and discuss the diagnostic and therapeutic challenges encountered, with the aim of informing clinical management of this disease. CASE PRESENTATION: We describe a 24-year-old man with a 7-year history of HIV infection who had suboptimal adherence to antiretroviral therapy (ART). Over the past 3 years, he developed a gradually enlarging perianal mass with intermittent bleeding and purulent discharge. Over a 6-month period, he presented with progressive fatigue and exertional dyspnea. Laboratory evaluation revealed severe anemia and hypoproteinemia. The diagnosis of GCA was established by histopathological examination of the perianal lesion, supported by imaging findings and clinical manifestations, and assessed for disease extent. He underwent wide local excision of the mass and received optimized antiretroviral therapy, culture-guided antimicrobial therapy, and supportive care. He experienced marked clinical improvement postoperatively. At 3-month follow-up, the wound had completely healed, anal sphincter function was preserved, and there was no evidence of recurrence. CONCLUSIONS: This case illustrates a rare but clinically significant manifestation of HPV-related disease in the context of HIV-associated immunosuppression. GCA should be considered in the differential diagnosis for HIV-positive patients presenting with extensive anogenital masses. Early histopathological confirmation and multidisciplinary management facilitate timely diagnosis and intervention.", "provenance": [ { "field": "n", "quote": "a 24-year-old man with a 7-year history of HIV infection" }, { "field": "population", "quote": "a 24-year-old man with a 7-year history of HIV infection who had suboptimal adherence to antiretroviral therapy (ART)" }, { "field": "intervention", "quote": "He underwent wide local excision of the mass and received optimized antiretroviral therapy, culture-guided antimicrobial therapy, and supportive care." }, { "field": "comparator", "quote": "We describe a 24-year-old man" }, { "field": "primaryOutcome", "quote": "At 3-month follow-up, the wound had completely healed, anal sphincter function was preserved, and there was no evidence of recurrence." }, { "field": "result", "quote": "At 3-month follow-up, the wound had completely healed, anal sphincter function was preserved, and there was no evidence of recurrence." }, { "field": "followUp", "quote": "At 3-month follow-up" } ] }, { "id": "pmid:42191223", "pmid": "42191223", "doi": "10.1093/ibd/izag089", "nctId": null, "pmcid": null, "title": "Transperineal contrast-enhanced ultrasound: a rapid and reliable tool for differentiating abscesses from inflammatory masses in perianal Crohn's disease", "firstAuthor": "Maconi", "multipleAuthors": true, "journal": "Inflamm Bowel Dis", "year": 2026, "design": "retrospective", "n": 37, "nField": "reported", "population": "adults with Crohn's disease who had painful bumps or swelling near the anus and possible infection", "intervention": "contrast-enhanced ultrasound scan done through the skin near the anus", "comparator": "standard ultrasound without contrast", "primaryOutcome": "how well the scan told apart a pus-filled abscess from a non-pus inflamed lump", "result": "the contrast ultrasound reclassified many lumps compared with standard ultrasound and doctors agreed with each other and with themselves much more often using it", "resultDirection": "benefit", "quality": "low", "qualityWhy": "this was a small retrospective review of ultrasound recordings in Crohn's patients, not a trial testing whether treatment or outcomes improved", "directness": "indirect", "limitations": "retrospective design, small number of patients, only examined selected lesions over 10mm, excluded simple fistulas and large obvious abscesses", "followUp": "", "plainFinding": "better scan tells abscess from inflamed lump", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/42191223/", "sourceText": "BACKGROUND AND AIM: Perianal abscesses are serious complications of Crohn's disease (CD) requiring timely and accurate diagnosis. Contrast-enhanced ultrasound (CEUS), which in abdominal intestinal ultrasound (IUS) has shown diagnostic performance comparable to CT/MRI in distinguishing intra-abdominal abscesses from inflammatory masses, has not been systematically evaluated in the transperineal assessment of perianal Crohn's disease. This study aimed to evaluate the diagnostic performance, inter- and intra-observer agreement, and diagnostic confidence of transperineal CEUS versus conventional B-mode TPUS in CD patients with perianal symptoms and suspected septic complications. METHODS: We retrospectively reviewed 52 examinations of 37 adult CD patients presenting with painful perianal symptoms and suspected septic complications. Patients were included if TPUS detected lesions > 10 mm requiring CEUS characterization. Exclusion criteria were CEUS contraindications, simple fistulas, or large (>3 cm) obvious abscesses. All examinations were recorded, and three blinded experts independently assessed anonymized videos in random order. Lesions were classified as abscesses, inflammatory masses, or phlegmons. Agreement for lesion size, fluid content, and final diagnosis was evaluated using intraclass correlation coefficients (ICC) and Fleiss-Cohen's kappa (κ). Diagnostic confidence was assessed using a 5-point Likert scale. RESULTS: On B-mode, 17 abscesses, 32 inflammatory masses, and 3 phlegmons were identified. CEUS reclassified several, yielding 16 abscesses, 31 inflammatory masses, and 5 phlegmons. Of the 17 abscesses diagnosed on B-mode, only 4 were also classified as abscesses on CEUS, while 13 were reclassified; conversely, 11 inflammatory masses were reclassified as abscesses. Intra-observer reliability improved from κ = 0.55 with B-mode to κ = 0.95 with CEUS. Inter-observer agreement for diagnosis was poor with B-mode (κ = 0.31) but excellent with CEUS (κ = 0.83). CONCLUSIONS: Transperineal CEUS significantly improves inter- and intra-observer agreement and diagnostic confidence compared with conventional B-mode TPUS when differentiating perianal abscesses from inflammatory masses/phlegmons in CD and frequently leads to lesion reclassification in clinically ambiguous cases.", "provenance": [ { "field": "n", "quote": "52 examinations of 37 adult CD patients" }, { "field": "population", "quote": "CD patients with perianal symptoms and suspected septic complications" }, { "field": "intervention", "quote": "transperineal CEUS" }, { "field": "comparator", "quote": "conventional B-mode TPUS" }, { "field": "primaryOutcome", "quote": "Lesions were classified as abscesses, inflammatory masses, or phlegmons." }, { "field": "result", "quote": "Of the 17 abscesses diagnosed on B-mode, only 4 were also classified as abscesses on CEUS, while 13 were reclassified; conversely, 11 inflammatory masses were reclassified as abscesses." } ] }, { "id": "pmid:42117990", "pmid": "42117990", "doi": "10.1148/radiol.251909", "nctId": null, "pmcid": null, "title": "How I Do It: MRI Approach to Perianal Fistulas", "firstAuthor": "Stoker", "multipleAuthors": true, "journal": "Radiology", "year": 2026, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with a perianal fistula, including those with Crohn disease", "intervention": "pelvic MRI to examine the fistula", "comparator": "", "primaryOutcome": "accurate classification, extent, and treatment response/healing of the fistula", "result": "MRI with described imaging technique helps classify fistula type/extent and assess healing, and radiologists should distinguish it from mimics like pilonidal sinus or hidradenitis suppurativa", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is an expert narrative review describing an imaging technique, not a study comparing outcomes with numbers of patients.", "directness": "direct", "limitations": "No patient numbers, no comparative data, and no outcome statistics are reported; it is a descriptive 'how I do it' guide rather than a research study.", "followUp": "", "plainFinding": "Bump may be an anal fistula from infection.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/42117990/", "sourceText": "Perianal fistula is a common, miserable, and often embarrassing condition that tends to recur. Most cases result from chronic infection of the anal glands (cryptoglandular), leading to an internal opening in the anal canal and an external opening that discharges fluid. Pelvic MRI has become essential for its management because it helps accurately classify the type and extent of the fistula, enabling optimized preoperative planning before surgery. It is particularly useful for perianal fistulas in patients with Crohn disease, in whom infections are often extensive. Examination involves imaging in three planes aligned with the anal canal axis, using T2-weighted sequences without fat saturation and at least one T2-weighted sequence with fat saturation; intravenous contrast material can also be used. Easy-to-use imaging criteria have been proposed to assess treatment response and healing in daily practice, while disease activity scores are primarily used for clinical research. Radiologists should be aware of mimics, such as pilonidal sinus and hidradenitis suppurativa, and recognize that cancers can rarely develop in fistulas. Reports should be tailored to the needs of the referring clinician rather than being merely descriptive.", "provenance": [ { "field": "population", "quote": "Most cases result from chronic infection of the anal glands (cryptoglandular), leading to an internal opening in the anal canal and an external opening that discharges fluid." }, { "field": "intervention", "quote": "Pelvic MRI has become essential for its management because it helps accurately classify the type and extent of the fistula, enabling optimized preoperative planning before surgery." }, { "field": "primaryOutcome", "quote": "Easy-to-use imaging criteria have been proposed to assess treatment response and healing in daily practice" }, { "field": "result", "quote": "It is particularly useful for perianal fistulas in patients with Crohn disease, in whom infections are often extensive." }, { "field": "result", "quote": "Radiologists should be aware of mimics, such as pilonidal sinus and hidradenitis suppurativa, and recognize that cancers can rarely develop in fistulas." } ] }, { "id": "pmid:41998420", "pmid": "41998420", "doi": "10.1007/s00261-026-05503-3", "nctId": null, "pmcid": null, "title": "Perianal pathology beyond fistulizing disease: spectrum of MRI findings and diagnostic pitfalls", "firstAuthor": "Fornell-Perez", "multipleAuthors": false, "journal": "Abdom Radiol (NY)", "year": 2026, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with lumps or abnormalities near the anus", "intervention": "MRI imaging to identify the cause", "comparator": "none", "primaryOutcome": "ability to correctly identify and distinguish types of perianal conditions on imaging", "result": "This review describes imaging features of many non-fistula-related perianal conditions to help tell them apart, without reporting outcome data or accuracy figures", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a narrative review of case examples and imaging teaching points, not a study measuring outcomes in patients.", "directness": "indirect", "limitations": "No patient numbers, no outcome data, no comparison of methods — it is a descriptive/teaching review based on selected cases.", "followUp": "", "plainFinding": "Describes imaging look of bumps, no outcomes.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41998420/", "sourceText": "Magnetic resonance imaging (MRI) of the perianal region is frequently performed in the context of fistulizing disease; however, a broad spectrum of non-fistulizing conditions may also affect this region. A wide variety of inflammatory, infectious, vascular, cystic, and neoplastic conditions, as well as anatomical variants and post-surgical changes, may involve the perianal region and often present with overlapping or nonspecific clinical manifestations.MRI, owing to its superior soft tissue contrast and multiplanar capability, plays a central role in the evaluation of perianal pathology. Beyond lesion detection, MRI enables accurate characterization, assessment of disease extent, and differentiation between entities that may be clinically indistinguishable, thereby supporting appropriate therapeutic decision-making. Importantly, perianal abnormalities may also be incidentally detected on pelvic MRI studies performed for unrelated indications. In such cases, unfamiliarity with the full spectrum of perianal findings may represent a source of diagnostic uncertainty, particularly for less experienced radiologists.This review focuses on the MRI appearance of non-fistulizing perianal pathology, emphasizing key imaging features that aid in differential diagnosis across a broad range of benign and malignant conditions. Representative cases from routine clinical practice are presented to illustrate typical and atypical imaging patterns, as well as common diagnostic pitfalls. Selected complementary computed tomography findings are included when relevant.Given the relative infrequency of many perianal conditions, comprehensive knowledge of their MRI features, along with recognition of normal anatomical variants and expected post-treatment appearances, is essential. Such familiarity helps avoid misinterpretation, unnecessary invasive procedures, and delayed diagnosis, ultimately contributing to improved patient management and clinical outcomes.", "provenance": [ { "field": "population", "quote": "perianal abnormalities may also be incidentally detected on pelvic MRI studies performed for unrelated indications" }, { "field": "intervention", "quote": "Magnetic resonance imaging (MRI) of the perianal region is frequently performed" }, { "field": "comparator", "quote": "Selected complementary computed tomography findings are included when relevant." }, { "field": "primaryOutcome", "quote": "emphasizing key imaging features that aid in differential diagnosis across a broad range of benign and malignant conditions" }, { "field": "result", "quote": "This review focuses on the MRI appearance of non-fistulizing perianal pathology, emphasizing key imaging features that aid in differential diagnosis across a broad range of benign and malignant conditions." } ] }, { "id": "pmid:41871566", "pmid": "41871566", "doi": "10.24953/turkjpediatr.2025.6155", "nctId": null, "pmcid": null, "title": "Perianal and gluteal parasitic abscess of Enterobius vermicularis: case report and review of the literature", "firstAuthor": "Akyel", "multipleAuthors": true, "journal": "Turk J Pediatr", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "a 17-year-old girl with abdominal pain during her period", "intervention": "surgical drainage followed by anti-parasite medication (pyrantel pamoate)", "comparator": "none", "primaryOutcome": "resolution of the perianal/gluteal lump on follow-up MRI", "result": "the lump nearly completely went away one month after drainage and treatment", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how often this treatment works for others.", "directness": "direct", "limitations": "only one patient was described, and this is a rare presentation of a common infection.", "followUp": "one-month follow-up MRI", "plainFinding": "Pinworm infection caused the lump.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41871566/", "sourceText": "BACKGROUND: Enterobius vermicularis is a nematode that predominantly affects the pediatric population, particularly in families with school-aged children. While it typically causes intestinal symptoms, rare cases of extraintestinal involvement have been reported, including female genital tract involvement and complications such as appendicitis or enterocolitis. Perianal parasitic abscesses are also rare, with only a few cases reported in the literature. CASE PRESENTATION: A 17-year-old female presented with abdominal pain during menstruation. Pelvic ultrasound revealed a septated cystic lesion located posterior to the uterus. Magnetic resonance imaging (MRI) demonstrated a perianal lesion with thick material, appearing iso- to hyperintense on both T1- and T2-weighted images. The lesion extended into the left gluteal muscles and showed peripheral contrast enhancement and diffusion restriction. Notably, there were no surrounding inflammatory changes, making an abscess diagnosis less likely. Surgical drainage revealed pus, and cytological analysis identified abundant parasitic oocytes consistent with E. vermicularis. The patient was treated with surgical drainage followed by pyrantel pamoate, resulting in near-complete resolution of the lesion at the one-month follow-up MRI. A literature review was also conducted to identify previously reported cases of parasitic abscesses and to explore the differential diagnoses of perianal cystic lesions. CONCLUSIONS: Perianal abscesses due to parasitic infections are rare, particularly those caused solely by E. vermicularis. Given the high prevalence in childhood infestations, parasitic abscesses should be considered in the differential diagnosis of perianal collections in pediatric patients, especially in the absence of peripheral inflammatory signs.", "provenance": [ { "field": "population", "quote": "A 17-year-old female presented with abdominal pain during menstruation." }, { "field": "n", "quote": "A 17-year-old female presented" }, { "field": "intervention", "quote": "The patient was treated with surgical drainage followed by pyrantel pamoate" }, { "field": "primaryOutcome", "quote": "resulting in near-complete resolution of the lesion at the one-month follow-up MRI" }, { "field": "result", "quote": "resulting in near-complete resolution of the lesion at the one-month follow-up MRI" }, { "field": "comparator", "quote": "Surgical drainage revealed pus, and cytological analysis identified abundant parasitic oocytes consistent with E. vermicularis." } ] }, { "id": "pmid:41800580", "pmid": "41800580", "doi": null, "nctId": null, "pmcid": null, "title": "Benign Presacral Tumor Mimicking a Pilonidal Abscess: A Diagnostic Pitfall", "firstAuthor": "Kupietzky", "multipleAuthors": true, "journal": "Isr Med Assoc J", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "a 43-year-old woman with a slowly growing lump near the tailbone", "intervention": "surgical removal of the mass via a Kraske approach", "comparator": "none", "primaryOutcome": "final diagnosis and surgical outcome", "result": "the lump was not an infection but a benign cyst behind the rectum, successfully removed with no complications", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this is or what usually works best", "directness": "indirect", "limitations": "only one patient described, no comparison group, findings may not generalize", "followUp": "", "plainFinding": "Bump was a benign cyst, not an abscess", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41800580/", "sourceText": "Presacral tumors are rare and heterogeneous neoplasms that develop in the space between the rectum and sacrum. Their low prevalence and diverse embryologic origins often complicate diagnosis and management. We present the case of a 43-year-old woman who was initially misdiagnosed with a pilonidal abscess, later identified as a benign presacral tumor. PATIENT DESCRIPTION A 43-year-old woman presented with a gradually enlarging mass in the pilonidal region over the course of several months. She was referred to our colorectal clinic with a presumptive diagnosis of a pilonidal abscess made by her primary care physician. The patient was otherwise healthy, with no complaints of pain, fever, chills, or unintentional weight loss. On physical examination, a non-tender mass was palpated over the coccygeal region. Notably, there were no midline pits or visible hair [Figure 1A]. Given the atypical presentation, a magnetic resonance imaging (MRI) was performed, which revealed a well-defined, large presacral bilobular thin-walled cystic mass, posterior to the rectum, without any post contrast ring-enhancement or intramural solid nodule [Figure 1B]. Due to the low anatomical position of the mass relative to the sacrum, a Kraske approach was selected for surgical excision. Under general anesthesia, the patient was placed in the prone jackknife position. A vertical midline incision was made 7 cm cephalad to the anal verge, over the coccyx. This position exposed a well-encapsulated, large presacral tumor [Figure 1C], which was excised en-bloc along with the tip of the coccyx [Figure 1D, Figure 1E]. The specimen was sent for pathological evaluation, which revealed a retrorectal epidermal cyst. The patient's postoperative course was uneventful, and she was discharged on postoperative day one. Informed consent was obtained from the patient.", "provenance": [ { "field": "n", "quote": "A 43-year-old woman presented with a gradually enlarging mass in the pilonidal region over the course of several months." }, { "field": "population", "quote": "A 43-year-old woman presented with a gradually enlarging mass in the pilonidal region over the course of several months." }, { "field": "intervention", "quote": "a Kraske approach was selected for surgical excision" }, { "field": "comparator", "quote": "Presacral tumors are rare and heterogeneous neoplasms" }, { "field": "primaryOutcome", "quote": "The specimen was sent for pathological evaluation, which revealed a retrorectal epidermal cyst." }, { "field": "result", "quote": "revealed a retrorectal epidermal cyst. The patient's postoperative course was uneventful, and she was discharged on postoperative day one." } ] }, { "id": "pmid:41733318", "pmid": "41733318", "doi": "10.17992/lbl.2026.03.883", "nctId": null, "pmcid": null, "title": "[Perianal tuberculosis]", "firstAuthor": "Kristjansdottir", "multipleAuthors": true, "journal": "Laeknabladid", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "a healthy 41-year-old man", "intervention": "surgical drainage followed by six months of anti-tuberculosis medication", "comparator": "", "primaryOutcome": "wound healing and resolution of infection", "result": "the perianal wound and underlying tuberculosis infection healed fully after treatment", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how often this happens or what works best in general", "directness": "direct", "limitations": "single case report with no comparison group, so findings cannot be generalized", "followUp": "six-month course of anti-tuberculosis medications", "plainFinding": "Rare TB cause, fully treatable.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41733318/", "sourceText": "Perianal tuberculosis is a rare manifestation of tuberculosis. This report describes a healthy 41-year-old man diagnosed with a perianal abscess that required examination and surgical drainage under general anesthesia. The wound healed poorly over the following months, prompting repeat cultures and tissue sampling. Histological diagnosis revealed necrotizing granulomatous inflammation and acid-fast bacilli, indicating mycobacterial infection. Further investigation revealed pulmonary tuberculosis. The patient received a six-month course of anti-tuberculosis medications and recovered fully. The perianal wound healed well following treatment. Tuberculosis is an important differential diagnosis in individuals with a wound or a lesion near the anus or elsewhere that heals slowly or recurs.", "provenance": [ { "field": "population", "quote": "This report describes a healthy 41-year-old man diagnosed with a perianal abscess" }, { "field": "n", "quote": "a healthy 41-year-old man" }, { "field": "intervention", "quote": "required examination and surgical drainage under general anesthesia" }, { "field": "intervention", "quote": "The patient received a six-month course of anti-tuberculosis medications" }, { "field": "result", "quote": "The patient received a six-month course of anti-tuberculosis medications and recovered fully. The perianal wound healed well following treatment." }, { "field": "primaryOutcome", "quote": "The wound healed poorly over the following months, prompting repeat cultures and tissue sampling." } ] }, { "id": "pmid:41455178", "pmid": "41455178", "doi": "10.1016/j.crad.2025.107198", "nctId": null, "pmcid": null, "title": "Atypical course of fistulas and intramural abscesses in patients with perianal fistula on magnetic resonance imaging: predictive signs for Crohn's disease?", "firstAuthor": "Kuru Öz", "multipleAuthors": true, "journal": "Clin Radiol", "year": 2026, "design": "retrospective", "n": 624, "nField": "reported", "population": "patients with perianal fistulas who had MRI scans", "intervention": "MRI features of the fistula (such as abscesses inside the bowel wall, complex fistula tracts, and opening location)", "comparator": "fistulas not caused by Crohn's disease (cryptoglandular/idiopathic fistulas)", "primaryOutcome": "whether certain MRI features could identify Crohn's disease as the cause of the fistula", "result": "Abscesses inside the bowel wall, complex fistula tracts, and certain opening locations were strongly linked to Crohn's disease, while fistulas passing through the anal sphincter muscle were usually not Crohn's-related", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This was a retrospective look-back at scans rather than a forward-planned study, so it can show patterns but not prove cause and effect.", "directness": "indirect", "limitations": "Retrospective analysis; study looks at distinguishing disease causes rather than directly answering why a lump forms.", "followUp": "", "plainFinding": "MRI clues may signal Crohn's-related fistula.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41455178/", "sourceText": "AIM: The aim of this study is to investigate the relationship between Crohn's disease (CD) and atypical fistula characteristics, including their course within the external anal sphincter (EAS) and concurrent intramural abscesses, and to assess their role in distinguishing CD-associated fistulas. MATERIALS AND METHODS: A retrospective analysis of 624 patients with perianal fistulas was conducted via magnetic resonance imaging (MRI). Fistulas were classified by type, complexity, activity, course within the EAS, and presence of intramural abscesses. Logistic regression analyses identified factors differentiating CD-associated fistulas from idiopathic fistulas. RESULTS: Among the 624 patients, 109 had CD. Fistulas coursing within the EAS were observed in 10 % of patients, primarily of cryptoglandular origin (87.3 %), with a minority associated with CD (7.9 %). Intramural abscesses, which are significantly more prevalent in CD patients (P<.001), increased the likelihood of CD by 9.4-fold (95 % CI: 3.08-28.70, P<.001). Additionally, complex fistulas (OR = 2.46, P<.001) and internal orifice localisation in the proximal anal canal or distal rectum (OR = 2.26, P=.002) were identified as independent predictors of CD. CONCLUSION: Intramural abscesses, complex fistulas, and specific internal orifice locations are strong indicators of CD in patients with perianal fistulas. Furthermore, the course of fistulas within the EAS, although not strongly associated with CD, is a critical feature for treatment planning. Multidisciplinary studies are essential to refine classification systems and assess the prognostic implications of EAS-involving fistulas.", "provenance": [ { "field": "n", "quote": "A retrospective analysis of 624 patients with perianal fistulas was conducted via magnetic resonance imaging (MRI)." }, { "field": "population", "quote": "624 patients with perianal fistulas" }, { "field": "intervention", "quote": "Fistulas were classified by type, complexity, activity, course within the EAS, and presence of intramural abscesses." }, { "field": "comparator", "quote": "primarily of cryptoglandular origin (87.3 %), with a minority associated with CD (7.9 %)" }, { "field": "primaryOutcome", "quote": "Logistic regression analyses identified factors differentiating CD-associated fistulas from idiopathic fistulas." }, { "field": "result", "quote": "Intramural abscesses, which are significantly more prevalent in CD patients (P<.001), increased the likelihood of CD by 9.4-fold (95 % CI: 3.08-28.70, P<.001). Additionally, complex fistulas (OR = 2.46, P<.001) and internal orifice localisation in the proximal anal canal or distal rectum (OR = 2.26, P=.002) were identified as independent predictors of CD." } ] }, { "id": "pmid:41345764", "pmid": "41345764", "doi": "10.1111/codi.70331", "nctId": null, "pmcid": null, "title": "The diagnostic value of faecal calprotectin levels in patients with perianal fistula: A systematic review", "firstAuthor": "Chatziisaak", "multipleAuthors": true, "journal": "Colorectal Dis", "year": 2025, "design": "systematic-review", "n": 3, "nField": "reported", "population": "people with a fistula (tunnel) near the anus", "intervention": "stool test for calprotectin (a marker of gut inflammation)", "comparator": "no calprotectin testing / diagnosis based on other methods", "primaryOutcome": "ability of the stool test to tell apart fistulas caused by inflammatory bowel disease versus ordinary gland infection", "result": "stool calprotectin was higher in fistulas caused by inflammatory bowel disease, with moderate to high accuracy at distinguishing the two causes", "resultDirection": "benefit", "quality": "low", "qualityWhy": "Only three small studies were pooled without a meta-analysis, and cut-off values varied widely, so the evidence is not strong enough to be confident.", "directness": "indirect", "limitations": "Only three studies included, varying cut-off values, and sensitivities/specificities were inconsistent across studies.", "followUp": "", "plainFinding": "Stool test may help find cause.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41345764/", "sourceText": "AIM: Perianal fistula (PAF) is a common condition encountered in surgical and gastroenterological practice. Distinguishing between cryptoglandular disease (CGD) and inflammatory bowel disease (IBD)-related perianal disease is critical to ensure appropriate management. Faecal calprotectin (FC) has emerged as a promising non-invasive biomarker for IBD; however, its role in acute perianal disease is not well established. This systematic review aimed to evaluate the diagnostic accuracy of FC in distinguishing IBD-related perianal disease from CGD. METHOD: A systematic literature search was conducted in PubMed, Embase and Cochrane databases following PRISMA guidelines. Studies were included if they assessed FC levels in patients with PAF and provided diagnostic accuracy metrics. Data extraction focused on study design, population characteristics, FC cut-off values, sensitivity, specificity and area under the curve (AUC) metrics. RESULTS: Three studies met the inclusion criteria, all reporting significantly higher FC levels in IBD-related PAF compared to CGD-related fistulas. The proposed FC cut-off values varied, ranging from 110 μg/g to 344 μg/g, with corresponding sensitivities between 52% and 81%, as well as specificities between 77% and 93%. The AUC values indicated moderate to high diagnostic accuracy. CONCLUSION: FC shows potential as a diagnostic tool for differentiating IBD-related perianal disease from CGD. A cut-off of 110-150 μg/g appears most suitable for early screening, whereas a higher threshold may be appropriate for confirmatory diagnosis. Further prospective studies with standardized protocols are necessary to refine these thresholds and validate FC as a clinical decision-making tool.", "provenance": [ { "field": "population", "quote": "Studies were included if they assessed FC levels in patients with PAF and provided diagnostic accuracy metrics." }, { "field": "intervention", "quote": "Faecal calprotectin (FC) has emerged as a promising non-invasive biomarker for IBD" }, { "field": "comparator", "quote": "distinguishing IBD-related perianal disease from CGD" }, { "field": "primaryOutcome", "quote": "evaluate the diagnostic accuracy of FC in distinguishing IBD-related perianal disease from CGD" }, { "field": "result", "quote": "all reporting significantly higher FC levels in IBD-related PAF compared to CGD-related fistulas" }, { "field": "n", "quote": "Three studies met the inclusion criteria" } ] }, { "id": "pmid:41239594", "pmid": "41239594", "doi": "10.1097/MD.0000000000045818", "nctId": null, "pmcid": "PMC12622587", "title": "Extrasphincteric anal fistula with gluteal extension: A case report and literature review", "firstAuthor": "Chen", "multipleAuthors": true, "journal": "Medicine (Baltimore)", "year": 2025, "design": "case-series", "n": 1, "nField": "reported", "population": "27-year-old woman with 6 months of buttock pain, swelling and discharge", "intervention": "surgery to remove the fistula and infected tissue, with drainage", "comparator": "none (single patient, before-and-after treatment)", "primaryOutcome": "resolution of discharge, swelling, pain and wound healing after surgery", "result": "After surgery the patient had no purulent discharge, swelling, or pain in the buttocks, and the wound healed well over 18 months of follow-up", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how typical or reliable this outcome would be for others.", "directness": "direct", "limitations": "Only one patient was described, with no comparison group, so results may not generalize.", "followUp": "18 months", "plainFinding": "Fistula healed after surgery.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41239594/", "sourceText": "RATIONALE: Anal fistulas typically result from infected anal glands, presenting with symptoms like recurrent purulent discharge, pain, and itching around the anus. Infections are commonly located in the skin, soft tissues, or spaces surrounding the rectum and anal canal. Notably, extensive subcutaneous tissue infections in the buttocks are exceedingly uncommon. Distinguishing this condition from anal fistulas associated with Crohn disease poses a significant diagnostic challenge. PATIENT CONCERNS: A 27-year-old female patient presented with pain, swelling, and purulent discharge in the buttocks persisting for 6 months, with a recent exacerbation over the last 2 days. DIAGNOSES: The diagnoses were established through a comprehensive medical history assessment, physical examination, enhanced magnetic resonance imaging of the anal canal, and electronic colonoscopy, revealing: complex anal fistula, infected sinus in the buttock area, constipation, and mild anemia. INTERVENTIONS: The surgical intervention involving complete fistula dissection, excision of the affected area's apex in the buttocks, removal of necrotic material, fibrous tissue debridement, and thread-draped drainage facilitated fistula tract healing and markedly enhanced patients' quality of life. OUTCOMES: After treatment, the patient showed no purulent discharge, swelling, or pain in the buttocks, and there was no bleeding or fluid leakage. The patient was followed up for 18 months after the treatment, and the wound healed well, with a satisfactory treatment outcome. LESSONS: In the context of diagnosing and treating anal fistulas, it is crucial to abandon the notion that infection is limited to the perianal region. Utilizing advanced magnetic resonance imaging of the anal canal is essential for precise localization, while employing a combination of diagnostic examinations is warranted for accurate differential diagnosis. Postsurgical follow-up of anal fistula patients for a minimum of 1 year is advisable to monitor recurrence and address predisposing factors like constipation. In instances of uncommon variants, it is advisable to engage in multidisciplinary cooperation to synthesize insights from various specialties, thereby enhancing the scientific rigor of diagnostic and therapeutic approaches.", "provenance": [ { "field": "n", "quote": "A 27-year-old female patient presented with pain, swelling, and purulent discharge in the buttocks persisting for 6 months" }, { "field": "population", "quote": "A 27-year-old female patient presented with pain, swelling, and purulent discharge in the buttocks persisting for 6 months, with a recent exacerbation over the last 2 days." }, { "field": "intervention", "quote": "The surgical intervention involving complete fistula dissection, excision of the affected area's apex in the buttocks, removal of necrotic material, fibrous tissue debridement, and thread-draped drainage facilitated fistula tract healing" }, { "field": "comparator", "quote": "OUTCOMES: After treatment, the patient showed no purulent discharge, swelling, or pain in the buttocks" }, { "field": "primaryOutcome", "quote": "After treatment, the patient showed no purulent discharge, swelling, or pain in the buttocks, and there was no bleeding or fluid leakage." }, { "field": "result", "quote": "The patient was followed up for 18 months after the treatment, and the wound healed well, with a satisfactory treatment outcome." } ] }, { "id": "pmid:41201735", "pmid": "41201735", "doi": "10.1007/s15010-025-02684-9", "nctId": null, "pmcid": null, "title": "Perianal tuberculosis with active pulmonary tuberculosis - a case report and review of the literature", "firstAuthor": "de Bary", "multipleAuthors": true, "journal": "Infection", "year": 2026, "design": "case-series", "n": 195, "nField": "reported", "population": "Adults with perianal tuberculosis, including a 47-year-old man with perianal pain and discharge", "intervention": "Diagnosis and anti-tuberculosis treatment for perianal TB", "comparator": "No comparator group", "primaryOutcome": "Cause of perianal lumps, abscesses or fistulas and time to diagnosis", "result": "Perianal TB was found to cause abscess, fistula and ulcer-like lesions, often misdiagnosed for a long time, with pulmonary TB present in about a third of cases", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single case report combined with a review of past case reports, not a controlled study, so it can't prove how common or how treatable this cause is.", "directness": "direct", "limitations": "Based on one patient plus pooled case reports from the literature, with no control group and reliance on prior published cases of varying quality.", "followUp": "", "plainFinding": "TB can cause anal lumps.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/41201735/", "sourceText": "INTRODUCTION: Tuberculosis (TB) remains a significant global health issue, with extrapulmonary manifestations accounting for a notable proportion of cases. Perianal tuberculosis, however, is a rare presentation of TB, often leading to delayed diagnosis due to its nonspecific symptoms and similarity to other perianal diseases. METHODS: We present a case of perianal TB as primary manifestation leading to the diagnosis of simultaneous pulmonary TB, and a review of the literature based on a search in Medline. RESULTS: A 47-year-old male presented with perianal pain and purulent discharge. Histopathological examination and PCR analysis following surgical intervention confirmed the diagnosis of perianal TB. Chest imaging revealed nodular and cavitary lung lesions, indicating active pulmonary TB. The patient was initiated on a 9-month anti-tuberculosis treatment. Contact tracing identified latent TB infections among two close family members. Our literature search identified 59 relevant publications comprising 195 cases. The majority of the patients were male (88%), with a median age of 42 years, and originated from high prevalence regions. In many instances, diagnosis was delayed, with a mean duration of approximately two years from symptom onset to confirmation (median 6 month). Pulmonary tuberculosis was concurrently present in one third of the cases. CONCLUSION: Diagnosis of perianal TB is often delayed due to its rarity and nonspecific clinical presentation. TB must be considered in the differential diagnosis of ulcerative, fistulous and abscess-forming lesions of the perianal area, especially if recurrent, and in patients originating from high prevalence countries of TB. In many cases, further diagnostic evaluations reveal simultaneous pulmonary tuberculosis, underscoring the importance of a comprehensive diagnostic approach. From a clinical and public health perspective, early diagnosis and prompt initiation of treatment are essential to prevent disease progression and transmission.", "provenance": [ { "field": "population", "quote": "A 47-year-old male presented with perianal pain and purulent discharge." }, { "field": "intervention", "quote": "The patient was initiated on a 9-month anti-tuberculosis treatment." }, { "field": "comparator", "quote": "Our literature search identified 59 relevant publications comprising 195 cases." }, { "field": "primaryOutcome", "quote": "TB must be considered in the differential diagnosis of ulcerative, fistulous and abscess-forming lesions of the perianal area" }, { "field": "result", "quote": "Pulmonary tuberculosis was concurrently present in one third of the cases." }, { "field": "n", "quote": "195 cases" } ] }, { "id": "pmid:40952828", "pmid": "40952828", "doi": "10.4103/aam.aam_258_25", "nctId": null, "pmcid": "PMC13375006", "title": "Unraveling the Causes of Perianal Itching: Magnetic Resonance Imaging as a Diagnostic Tool for Perianal Fistulas and Its Mimics", "firstAuthor": "Davra", "multipleAuthors": true, "journal": "Ann Afr Med", "year": 2026, "design": "prospective-cohort", "n": 59, "nField": "reported", "population": "adults aged 18 and older with perianal itching", "intervention": "MRI scan to diagnose cause of perianal itching", "comparator": "clinical and surgical findings", "primaryOutcome": "identifying and classifying the underlying cause (fistula, abscess, pilonidal sinus, hemorrhoids)", "result": "Perianal fistula was the most common cause (57.6%), followed by abscess (33.9%), pilonidal sinus (5.1%) and hemorrhoids (3.4%); MRI findings matched clinical and surgical findings well", "resultDirection": "benefit", "quality": "low", "qualityWhy": "This is a small observational study without a comparison group testing a treatment, so it shows what causes the bump but not whether any treatment works better than another.", "directness": "direct", "limitations": "Small sample size of 59 patients from a single department over 6 months; no control group or treatment comparison.", "followUp": "", "plainFinding": "Fistula or abscess most common causes.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40952828/", "sourceText": "BACKGROUND: Perianal itching is a common complaint associated with a variety of anorectal conditions such as fistulas, abscesses, hemorrhoids and pilonidal disease. Accurate diagnosis is essential for effective treatment and magnetic resonance imaging (MRI) plays a pivotal role due to its excellent soft-tissue resolution and multiplanar imaging. OBJECTIVE: The objective of this study was to evaluate the diagnostic utility of MRI in patients with perianal itching, focusing on the identification and classification of perianal fistulas and their mimics, using St. James and Parks classification systems. MATERIALS AND METHODS: This prospective observational study was conducted in the department of radiodiagnosis over 6 months (December 2023-May 2024) and included 59 patients aged ≥ 18 years with perianal itching. MRI (1.5T) pelvis scans were obtained using T1, T2, short tau inversion recovery, diffusion-weighted imaging, apparent diffusion coefficient and postcontrast sequences. Fistulas were classified using the St. James and Parks systems. Chi-square test assessed the correlation between the classifications. RESULTS: Among 59 cases, perianal fistula was most common (57.6%), followed by abscess (33.9%), pilonidal sinus (5.1%) and hemorrhoids (3.4%). The mean age was 45.8 ± 10.6 years with male predominance. Grade 2 fistulas ( 47.06%) and intersphincteric type (64.70%) were most frequent. A strong correlation ( P < 0.001) was observed between St. James and Parks classifications. Common complications included abscesses (70.6%) and horseshoe tracts (14.7%). MRI findings showed high concordance with clinical and surgical data. CONCLUSION: MRI is a sensitive, noninvasive tool for evaluating perianal itching. It effectively characterizes underlying pathology, guides treatment planning, shows strong classification correlation and enhancing clinical decision-making.", "provenance": [ { "field": "n", "quote": "included 59 patients aged ≥ 18 years with perianal itching" }, { "field": "population", "quote": "included 59 patients aged ≥ 18 years with perianal itching" }, { "field": "intervention", "quote": "MRI (1.5T) pelvis scans were obtained using T1, T2, short tau inversion recovery, diffusion-weighted imaging, apparent diffusion coefficient and postcontrast sequences" }, { "field": "comparator", "quote": "MRI findings showed high concordance with clinical and surgical data" }, { "field": "primaryOutcome", "quote": "evaluate the diagnostic utility of MRI in patients with perianal itching, focusing on the identification and classification of perianal fistulas and their mimics" }, { "field": "result", "quote": "Among 59 cases, perianal fistula was most common (57.6%), followed by abscess (33.9%), pilonidal sinus (5.1%) and hemorrhoids (3.4%)." }, { "field": "result", "quote": "MRI findings showed high concordance with clinical and surgical data." } ] }, { "id": "pmid:40932585", "pmid": "40932585", "doi": "10.1007/s12024-025-01086-5", "nctId": null, "pmcid": null, "title": "Differential diagnosis of perianal herpes: sexual abuse or autoinoculation?", "firstAuthor": "Nouma", "multipleAuthors": true, "journal": "Forensic Sci Med Pathol", "year": 2026, "design": "case-series", "n": 1, "nField": "reported", "population": "13-year-old boy with bumps near the anus", "intervention": "PCR testing and forensic/psychological evaluation for perianal lesions", "comparator": "none", "primaryOutcome": "cause of perianal lesions (herpes vs sexual abuse)", "result": "lesions were herpes simplex virus type 1, but sexual abuse could not be ruled out or confirmed", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or what usually happens.", "directness": "direct", "limitations": "Single case, diagnostic uncertainty, conflicting findings between PCR and serology, and inconclusive abuse investigation.", "followUp": "", "plainFinding": "Bump was herpes virus infection.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40932585/", "sourceText": "A 13-year-old boy was referred to the forensic department for suspicion of unreported sexual abuse due to the presence of perianal dermatologic lesions. The forensic examination revealed perianal herpes simplex virus type 1 (HSV-1) lesions using nucleic acid amplification by polymerase chain reaction (PCR) outside of any traumatic or other dermatological lesions. Repeated serological tests for sexually transmitted infections (STIs) were negative. However during the psychological interview, the child reported penile touching by a 15-year-old boy at least one week earlier. Both the examination of the alleged aggressor and the serological tests for HSV and STIs were negative. This case presents a challenge in differential diagnosis and highlights the difficulty in interpreting medical findings in cases of suspected sexual abuse.", "provenance": [ { "field": "population", "quote": "A 13-year-old boy was referred to the forensic department for suspicion of unreported sexual abuse due to the presence of perianal dermatologic lesions." }, { "field": "intervention", "quote": "The forensic examination revealed perianal herpes simplex virus type 1 (HSV-1) lesions using nucleic acid amplification by polymerase chain reaction (PCR) outside of any traumatic or other dermatological lesions." }, { "field": "comparator", "quote": "Both the examination of the alleged aggressor and the serological tests for HSV and STIs were negative." }, { "field": "primaryOutcome", "quote": "This case presents a challenge in differential diagnosis and highlights the difficulty in interpreting medical findings in cases of suspected sexual abuse." }, { "field": "result", "quote": "Repeated serological tests for sexually transmitted infections (STIs) were negative. However during the psychological interview, the child reported penile touching by a 15-year-old boy at least one week earlier." }, { "field": "n", "quote": "A 13-year-old boy was referred to the forensic department" } ] }, { "id": "pmid:40716427", "pmid": "40716427", "doi": "10.1159/000547570", "nctId": null, "pmcid": null, "title": "Magnetic Resonance Imaging for Distinguishing Perianal Hidradenitis Suppurativa from Fistulizing Crohn Disease", "firstAuthor": "Yamanaka-Takaichi", "multipleAuthors": true, "journal": "Dermatology", "year": 2025, "design": "retrospective", "n": 123, "nField": "reported", "population": "patients with hidradenitis suppurativa or Crohn disease who had bumps/lesions near the anus and underwent pelvic MRI", "intervention": "MRI scoring system looking at imaging features of the perianal area", "comparator": "comparing MRI findings between hidradenitis suppurativa patients and Crohn disease patients", "primaryOutcome": "whether MRI features could tell apart hidradenitis suppurativa from Crohn disease as the cause of perianal tunnels/fistulas", "result": "MRI showed different patterns for each disease, and a scoring system built from these differences correctly told the two apart most of the time (sensitivity 0.77, specificity 0.80)", "resultDirection": "benefit", "quality": "low", "qualityWhy": "This was a retrospective review of medical records at one hospital, so it shows an association but can't prove the scoring system works well everywhere.", "directness": "indirect", "limitations": "Retrospective design, single center (Mayo Clinic), and the scoring system still misclassified roughly 1 in 5 cases.", "followUp": "", "plainFinding": "MRI can help tell apart two causes of anal bumps/tunnels.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40716427/", "sourceText": "INTRODUCTION: Both hidradenitis suppurativa (HS) and Crohn disease (CD) are characterized by suppuration and granulomatous inflammation, which may result in formation of tunnels, sinus tracts, or fistulas. We sought to determine the differences in characteristics of fistulizing perianal CD vs. perianal HS on magnetic resonance imaging (MRI). METHODS: This retrospective cohort study included patients diagnosed with CD, HS, or both diseases who underwent medical examination at the Mayo Clinic between January 1, 1998, and July 31, 2021. We further selected patients who had documented perianal lesions and underwent pelvic MRI. Two abdominal radiologists blinded to clinical diagnosis reviewed the MR images for the presence or absence of 10 characteristics. For characteristics that differed significantly between patients with CD and HS, odds ratios were calculated. A radiomics-based MRI scoring system was constructed according to the odds ratios and was validated. RESULTS: On MRI, significantly more patients in the HS group (n = 49) than the CD group (n = 74) had subcutaneous tunnels (35% vs. 4%; p < 0.001), soft-tissue inflammation of subcutaneous tissue and skin (35% vs. 5%; p < 0.001), and inguinal lymphadenopathy (65% vs. 45%; p = 0.02). Significantly more patients in the CD group than the HS group had transsphincteric fistula (64% vs. 35%; p = 0.002), intersphincteric fistula (58% vs. 29%; p = 0.001), mesorectal lymphadenopathy (26% vs. 4%; p = 0.002), and rectal inflammation (32% vs. 12%; p = 0.01). The proposed MRI scoring system for distinguishing HS from CD had a sensitivity of 0.77, specificity of 0.80, and area under the curve of 0.84. CONCLUSION: MRI may be a valuable tool in distinguishing perianal draining tunnels in HS from fistulizing perianal CD. The MRI scoring system we created could help in the clinical decision-making process. Combining MRI with other investigational and clinical findings may improve diagnostic accuracy for these challenging perianal diseases.", "provenance": [ { "field": "n", "quote": "HS group (n = 49) than the CD group (n = 74)" }, { "field": "population", "quote": "This retrospective cohort study included patients diagnosed with CD, HS, or both diseases" }, { "field": "population", "quote": "We further selected patients who had documented perianal lesions and underwent pelvic MRI." }, { "field": "intervention", "quote": "A radiomics-based MRI scoring system was constructed according to the odds ratios and was validated." }, { "field": "comparator", "quote": "differences in characteristics of fistulizing perianal CD vs. perianal HS on magnetic resonance imaging (MRI)" }, { "field": "primaryOutcome", "quote": "We sought to determine the differences in characteristics of fistulizing perianal CD vs. perianal HS on magnetic resonance imaging (MRI)." }, { "field": "result", "quote": "The proposed MRI scoring system for distinguishing HS from CD had a sensitivity of 0.77, specificity of 0.80, and area under the curve of 0.84." } ] }, { "id": "pmid:40682731", "pmid": "40682731", "doi": "10.1007/s12664-025-01809-0", "nctId": null, "pmcid": null, "title": "Magnetic resonance imaging to differentiate between Crohn's disease-associated and cryptoglandular perianal fistula", "firstAuthor": "Singh", "multipleAuthors": true, "journal": "Indian J Gastroenterol", "year": 2026, "design": "retrospective", "n": 119, "nField": "reported", "population": "patients with a perianal fistula who had pelvic MRI scans", "intervention": "MRI-based scoring system (the \"DMC index\") using features like number of internal openings, rectal thickening and distance of fistula origin from anal verge", "comparator": "patients with cryptoglandular (non-Crohn's) perianal fistula", "primaryOutcome": "ability of MRI features to tell whether a perianal fistula is caused by Crohn's disease rather than ordinary gland infection", "result": "a combined MRI score (DMC index) correctly identified Crohn's-related fistulas with high specificity (94%) and moderate sensitivity (65%), with an area under curve of 0.88", "resultDirection": "benefit", "quality": "low", "qualityWhy": "it is a single-center retrospective review of 119 patients without outside validation, so the scoring tool's accuracy may not hold up elsewhere.", "directness": "direct", "limitations": "retrospective, single-center design; only 119 of 287 scanned patients were analyzed; no external validation of the index mentioned", "followUp": "", "plainFinding": "MRI pattern can flag Crohn's-caused fistula.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40682731/", "sourceText": "BACKGROUND: The radiological features of Crohn's disease (CD)-associated and cryptoglandular perianal fistulae (PAF) are similar, but distinguishing them is crucial for treatment decisions. Delayed CD diagnosis in PAF can worsen long-term outcomes and accurate radiological differentiation may help identify CD-associated PAF. METHODS: In a retrospective single-center study, we analyzed the pelvic MRI images of the patients with PAF. Logistic regression analysis was performed to identify MRI parameters with independent predictive value for CD-associated PAF. Statistically significant magnetic resonance imaging (MRI) parameters from the model, along with their corresponding coefficients, were used to develop the \"DMC index\" for differentiating between CD-associated and cryptoglandular PAF. RESULTS: Out of the 287 MRI screened for eligibility, 119 cases, including 32 (26.89%) patients with an established clinical diagnosis of CD, were analyzed. On multivariate logistic regression analysis, ≥ 2 internal openings of the fistula tract, rectal thickening and distance of the mucosal origin from the anal verge > 1.85 cm predicted the PAF to be associated with CD. The DMC index, with a threshold of ≥ 1.5, demonstrated strong discriminatory ability for CD-associated PAF (sensitivity 65%; specificity 94%; area under curve 0.88 [95% CI 0.81-0.95; p < 0.0001]). CONCLUSION: The DMC index effectively identifies CD-associated PAF with high specificity, ensuring minimal false positives and strong diagnostic reliability. Integrating this index with additional diagnostic modalities may facilitate earlier CD diagnosis in patients presenting with PAF, potentially improving long-term clinical outcomes.", "provenance": [ { "field": "population", "quote": "we analyzed the pelvic MRI images of the patients with PAF" }, { "field": "n", "quote": "119 cases, including 32 (26.89%) patients with an established clinical diagnosis of CD, were analyzed" }, { "field": "intervention", "quote": "The DMC index, with a threshold of ≥ 1.5, demonstrated strong discriminatory ability for CD-associated PAF" }, { "field": "comparator", "quote": "distinguishing them is crucial for treatment decisions" }, { "field": "primaryOutcome", "quote": "distinguishing them is crucial for treatment decisions" }, { "field": "result", "quote": "sensitivity 65%; specificity 94%; area under curve 0.88 [95% CI 0.81-0.95; p < 0.0001]" } ] }, { "id": "pmid:40493115", "pmid": "40493115", "doi": "10.1007/s10151-025-03160-0", "nctId": null, "pmcid": "PMC12152023", "title": "Artificial intelligence and endoanal ultrasound: pioneering automated differentiation of benign anal and sphincter lesions", "firstAuthor": "Mascarenhas", "multipleAuthors": true, "journal": "Tech Coloproctol", "year": 2025, "design": "retrospective", "n": 238, "nField": "reported", "population": "patients who had endoanal ultrasound exams for anal lacerations or fissures", "intervention": "AI (CNN) algorithm analyzing ultrasound images to classify anal lesions", "comparator": "expert-validated classification of the same images", "primaryOutcome": "accuracy of AI in telling apart fissures, internal lacerations, and external lacerations", "result": "AI correctly identified external lacerations 88.2% of the time, internal lacerations 88.2% of the time, and fissures 100% of the time", "resultDirection": "benefit", "quality": "low", "qualityWhy": "it was a small, single-center retrospective study using only 238 exams with no outside testing, so results may not hold up elsewhere", "directness": "indirect", "limitations": "small dataset and single-center scope", "followUp": "", "plainFinding": "AI accurately sorted anal injury types.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40493115/", "sourceText": "BACKGROUND: Anal injuries, such as lacerations and fissures, are challenging to diagnose because of their anatomical complexity. Endoanal ultrasound (EAUS) has proven to be a reliable tool for detailed visualization of anal structures but relies on expert interpretation. Artificial intelligence (AI) may offer a solution for more accurate and consistent diagnoses. This study aims to develop and test a convolutional neural network (CNN)-based algorithm for automatic classification of fissures and anal lacerations (internal and external) on EUAS. METHODS: A single-center retrospective study analyzed 238 EUAS radial probe exams (April 2022-January 2024), categorizing 4528 frames into fissures (516), external lacerations (2174), and internal lacerations (1838), following validation by three experts. Data was split 80% for training and 20% for testing. Performance metrics included sensitivity, specificity, and accuracy. RESULTS: For external lacerations, the CNN achieved 82.5% sensitivity, 93.5% specificity, and 88.2% accuracy. For internal lacerations, achieved 91.7% sensitivity, 85.9% specificity, and 88.2% accuracy. For anal fissures, achieved 100% sensitivity, specificity, and accuracy. CONCLUSION: This first EUAS AI-assisted model for differentiating benign anal injuries demonstrates excellent diagnostic performance. It highlights AI's potential to improve accuracy, reduce reliance on expertise, and support broader clinical adoption. While currently limited by small dataset and single-center scope, this work represents a significant step towards integrating AI in proctology.", "provenance": [ { "field": "population", "quote": "A single-center retrospective study analyzed 238 EUAS radial probe exams (April 2022-January 2024), categorizing 4528 frames into fissures (516), external lacerations (2174), and internal lacerations (1838)" }, { "field": "intervention", "quote": "a convolutional neural network (CNN)-based algorithm for automatic classification of fissures and anal lacerations (internal and external) on EUAS" }, { "field": "comparator", "quote": "following validation by three experts" }, { "field": "primaryOutcome", "quote": "Performance metrics included sensitivity, specificity, and accuracy." }, { "field": "result", "quote": "For external lacerations, the CNN achieved 82.5% sensitivity, 93.5% specificity, and 88.2% accuracy. For internal lacerations, achieved 91.7% sensitivity, 85.9% specificity, and 88.2% accuracy. For anal fissures, achieved 100% sensitivity, specificity, and accuracy." }, { "field": "n", "quote": "238 EUAS radial probe exams" }, { "field": "limitations", "quote": "While currently limited by small dataset and single-center scope" } ] }, { "id": "pmid:40315877", "pmid": "40315877", "doi": "10.1016/S2468-1253(25)00007-X", "nctId": null, "pmcid": null, "title": "Isolated perianal Crohn's disease: a systematic review and expert consensus proposing novel diagnostic criteria and management advice", "firstAuthor": "Hanna", "multipleAuthors": true, "journal": "Lancet Gastroenterol Hepatol", "year": 2025, "design": "systematic-review", "n": 50, "nField": "reported", "population": "people with perianal fistulae (tunnels near the anus) who were being treated as having idiopathic (non-Crohn's) fistulae", "intervention": "a newly proposed set of diagnostic criteria to identify isolated perianal Crohn's disease", "comparator": "usual diagnosis of idiopathic perianal fistulae", "primaryOutcome": "whether patients met new diagnostic criteria for isolated perianal Crohn's disease", "result": "6 of 50 patients (12%) met the new diagnostic criteria for isolated perianal Crohn's disease", "resultDirection": "unclear", "quality": "low", "qualityWhy": "The abstract itself says evidence is scarce and the framework is opinion-based and still needs validation.", "directness": "direct", "limitations": "The abstract states the framework is opinion-based, evidence is scarce, and the criteria 'require validation and refinement.'", "followUp": "", "plainFinding": "New criteria found hidden Crohn's in some.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40315877/", "sourceText": "Perianal fistulae can present a diagnostic challenge when distinguishing perianal Crohn's disease from idiopathic perianal fistulae. This distinction is key, as perianal Crohn's disease requires inflammatory bowel disease (IBD) therapy, whereas idiopathic perianal fistulae are primarily managed surgically. When luminal inflammation is absent, but Crohn's disease is suspected, the term isolated perianal Crohn's disease is sometimes applied. However, no formal guidance exists for diagnosing or managing isolated perianal Crohn's disease. Furthermore, whereas fistula granuloma might provide specific evidence of Crohn's disease, they are rarely detected in perianal fistulae, so are unlikely to sensitively delineate aetiology. This project aimed to develop an opinion-based framework for isolated perianal Crohn's disease. A systematic review evaluated clinical features suggestive of isolated perianal Crohn's disease and evidence for IBD therapies in patients with perianal fistulae without luminal IBD. The findings of this systematic review informed a multidisciplinary consensus process with IBD specialists, resulting in the formulation of diagnostic criteria and management recommendations for isolated perianal Crohn's disease. We then tested this diagnostic approach in a prospective cohort of 50 patients treated as having idiopathic perianal fistulae at a proctology referral centre, identifying six (12%) individuals as meeting the diagnostic criteria. Our findings underscore the scarcity of evidence guiding isolated perianal Crohn's disease diagnosis and the need for a composite risk-based assessment. The proposed framework provides a tool for clinical practice and research but requires validation and refinement. Clear communication with patients is essential, given the diagnostic and therapeutic uncertainties. Future studies should refine these criteria, explore biological markers for isolated perianal Crohn's disease, and establish evidence-based methods to differentiate isolated perianal Crohn's disease within the perianal fistulae spectrum.", "provenance": [ { "field": "n", "quote": "a prospective cohort of 50 patients treated as having idiopathic perianal fistulae at a proctology referral centre" }, { "field": "population", "quote": "a prospective cohort of 50 patients treated as having idiopathic perianal fistulae at a proctology referral centre" }, { "field": "intervention", "quote": "diagnostic criteria and management recommendations for isolated perianal Crohn's disease" }, { "field": "comparator", "quote": "treated as having idiopathic perianal fistulae" }, { "field": "primaryOutcome", "quote": "identifying six (12%) individuals as meeting the diagnostic criteria" }, { "field": "result", "quote": "identifying six (12%) individuals as meeting the diagnostic criteria" } ] }, { "id": "pmid:40275791", "pmid": "40275791", "doi": "10.1177/03000605251333681", "nctId": null, "pmcid": "PMC12035377", "title": "Rare giant perianal smooth muscle tumor: A case report", "firstAuthor": "Guo", "multipleAuthors": true, "journal": "J Int Med Res", "year": 2025, "design": "case-series", "n": 1, "nField": "reported", "population": "a 48-year-old woman with perianal swelling and pain", "intervention": "surgical removal of the tumor", "comparator": "none", "primaryOutcome": "anal function and recurrence after surgery", "result": "anus functioned well with no recurrence after 2 years", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this is or what usually happens.", "directness": "direct", "limitations": "Single case report; no comparison group; findings cannot be generalized.", "followUp": "2 years", "plainFinding": "Rare tumor, successfully removed surgically.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40275791/", "sourceText": "Smooth muscle tumors are benign tumors originating from smooth muscle tissues, mostly occurring in the uterus and digestive tract; however, smooth muscle tumors occurring in the perianal sphincter are very rare. A 48-year-old woman presented with perianal swelling and pain and was misdiagnosed with a perianal abscess after examination at a foreign hospital. Upon further examination, the patient was diagnosed with a perianal smooth muscle tumor, with a size of approximately 6.5 × 5.5 × 4 cm. We succeeded in surgically removing the tumor. The patient was followed up for 2 years after the operation, and her anus functioned well without recurrence. Perianal abscess and perianal smooth muscle tumors are difficult to differentiate in the clinic and need to be identified via imaging. In clinical practice, smooth muscle tumors should be differentiated from perianal abscess and diseases such as rectal mesenchymal tumors and smooth muscle sarcomas.", "provenance": [ { "field": "n", "quote": "A 48-year-old woman presented with perianal swelling and pain" }, { "field": "population", "quote": "A 48-year-old woman presented with perianal swelling and pain and was misdiagnosed with a perianal abscess after examination at a foreign hospital." }, { "field": "intervention", "quote": "We succeeded in surgically removing the tumor." }, { "field": "comparator", "quote": "We succeeded in surgically removing the tumor." }, { "field": "primaryOutcome", "quote": "The patient was followed up for 2 years after the operation, and her anus functioned well without recurrence." }, { "field": "result", "quote": "her anus functioned well without recurrence" } ] }, { "id": "pmid:40199281", "pmid": "40199281", "doi": "10.24875/CIRU.22000314", "nctId": null, "pmcid": null, "title": "Pilonidal sinus of perianal location. Difficult differential diagnosis with perianal fistula", "firstAuthor": "Rubio-López", "multipleAuthors": true, "journal": "Cir Cir", "year": 2025, "design": "case-series", "n": 1, "nField": "reported", "population": "a 39-year-old man with a lump near the anus initially thought to be an anal fistula", "intervention": "surgery to examine and treat the area", "comparator": "none", "primaryOutcome": "correct diagnosis of the cause of the perianal lump/fistula", "result": "surgery revealed the lump was actually a pilonidal sinus (hair-containing cyst) in the perianal area, not a true anal fistula", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how well any treatment works or how common this is.", "directness": "direct", "limitations": "Only one patient described; no comparison group; diagnosis only confirmed during surgery despite prior imaging.", "followUp": "", "plainFinding": "Bump was a pilonidal sinus, not fistula.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/40199281/", "sourceText": "Pilonidal disease usually arises in the sacrococcygeal area in young men. We present a case of a 39-year-old male with an initial diagnosis of perianal fistula. Despite clinical examination and pelvic magnetic resonance image, only during surgery was revealed that the origin of the fistula was in perianal pilonidal disease. Perianal pilonidal sinus are very rare in the literature. It is often confused with other perianal diseases such as anal fistula. Thus, perianal pilonidal disease should be considered in the differential diagnosis of perianal fistula.", "provenance": [ { "field": "n", "quote": "a 39-year-old male" }, { "field": "population", "quote": "a case of a 39-year-old male with an initial diagnosis of perianal fistula" }, { "field": "intervention", "quote": "only during surgery was revealed that the origin of the fistula was in perianal pilonidal disease" }, { "field": "comparator", "quote": "Despite clinical examination and pelvic magnetic resonance image" }, { "field": "primaryOutcome", "quote": "only during surgery was revealed that the origin of the fistula was in perianal pilonidal disease" }, { "field": "result", "quote": "only during surgery was revealed that the origin of the fistula was in perianal pilonidal disease" } ] }, { "id": "pmid:39952904", "pmid": "39952904", "doi": "10.1111/codi.70026", "nctId": null, "pmcid": null, "title": "Faecal calprotectin as a non-invasive marker of Crohn's disease in anal fistulas", "firstAuthor": "Perregaard", "multipleAuthors": true, "journal": "Colorectal Dis", "year": 2025, "design": "retrospective", "n": 63, "nField": "reported", "population": "patients referred with an anal fistula", "intervention": "measuring faecal calprotectin level", "comparator": "colonoscopy to diagnose Crohn's disease", "primaryOutcome": "how well faecal calprotectin level tells apart Crohn's-related fistulas from other anal fistulas", "result": "higher calprotectin levels were linked to Crohn's disease, correctly identifying it about 78% of the time", "resultDirection": "benefit", "quality": "low", "qualityWhy": "This was a small retrospective study of only 63 patients testing a diagnostic test, not a treatment, so it says little about why someone has a bump and can't prove how well it works in general.", "directness": "indirect", "limitations": "Small sample size; retrospective design; does not address lumps/bumps generally, only distinguishing fistula cause in referred patients.", "followUp": "", "plainFinding": "Blood/stool test can hint at Crohn's cause.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39952904/", "sourceText": "AIM: Faecal calprotectin (FC) is a noninvasive marker that reflects intestinal inflammation with good sensitivity. A prior study indicated that FC values above 150 μg/g could distinguish between anal fistulas (AF) of cryptoglandular or Crohn's disease (CD) origin. It is hypothesized as a useful triage test to rule out CD in newly referred AF patients, thus reducing the number of ileocolonoscopies performed and optimizing treatment regimens in AF while minimizing patient discomfort as well as healthcare costs. The aim of the study was to determine the accuracy of FC in distinguishing between anal fistulas of cryptoglandular and CD origin, as well as compare characteristics in fistulas. METHOD: Patients referred with anal fistula who had an FC measurement and either ileocolonoscopy or colonoscopy within 12 weeks were included. Demographic and clinical characteristics were registered. Area under the curve (AUC) was calculated as well as sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and overall accuracy. RESULTS: A total of 63 patients were included (CD n = 31, 49%). FC was significantly higher in CD compared to cryptoglandular fistulas, even when CD was medically treated or had no luminal activity on endoscopy. FC ≥110 μg/g was significantly associated with CD (OR 12.5; 95% CI: 3.77-41.4) p < 0.0001. This was found by plotting a receiver operating characteristic (ROC) curve, with AUC 80.8 (95% CI: 0.6952-0.9217). Sensitivity and specificity were 0.76 and 0.80, respectively (PPV 76%, NPV 80% and accuracy 78%). CONCLUSION: FC discriminates CD from cryptoglandular fistulas, even in medically treated CD with normal endoscopic findings.", "provenance": [ { "field": "population", "quote": "Patients referred with anal fistula who had an FC measurement and either ileocolonoscopy or colonoscopy within 12 weeks were included." }, { "field": "intervention", "quote": "Faecal calprotectin (FC) is a noninvasive marker that reflects intestinal inflammation with good sensitivity." }, { "field": "comparator", "quote": "either ileocolonoscopy or colonoscopy within 12 weeks" }, { "field": "primaryOutcome", "quote": "The aim of the study was to determine the accuracy of FC in distinguishing between anal fistulas of cryptoglandular and CD origin" }, { "field": "result", "quote": "FC ≥110 μg/g was significantly associated with CD (OR 12.5; 95% CI: 3.77-41.4) p < 0.0001." }, { "field": "n", "quote": "A total of 63 patients were included (CD n = 31, 49%)." } ] }, { "id": "pmid:39946821", "pmid": "39946821", "doi": "10.1016/j.radi.2025.01.019", "nctId": null, "pmcid": null, "title": "A systematic review and meta-analysis of the diagnostic test accuracy of diffusion weighted imaging and apparent diffusion coefficient in differentiating active from inactive perianal fistula", "firstAuthor": "Inggriani", "multipleAuthors": true, "journal": "Radiography (Lond)", "year": 2025, "design": "meta-analysis", "n": 1007, "nField": "reported", "population": "patients with perianal fistulas", "intervention": "MRI diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC)", "comparator": "contrast-enhanced T1WI and other MRI sequences", "primaryOutcome": "accuracy in telling active from inactive fistula", "result": "T2WI combined with DWI was highly accurate; ADC alone was not reliable enough", "resultDirection": "mixed", "quality": "low", "qualityWhy": "The studies pooled had moderate to high risk of bias and were quite different from each other, so the results may not be fully trustworthy.", "directness": "indirect", "limitations": "moderate to high risk of bias and heterogeneity, may bias this conclusion", "followUp": "", "plainFinding": "Imaging can distinguish active fistulas, not a cause finder.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39946821/", "sourceText": "INTRODUCTION: This systematic review and meta-analysis evaluated the diagnostic accuracy of MRI-based apparent diffusion coefficient (ADC) and diffusion-weighted imaging (DWI) for differentiating active from inactive perianal fistulas. METHODS: The protocol was registered with the International Prospective Register of Systematic Reviews (PROSPERO) (CRD42024596604). The review included five databases (MEDLINE, Cochrane Library, PubMed, Science Direct, and Google Scholar). Meta-analyses were performed on studies reporting ADC values and other sequences using STATA software with the \"Midas\" command. RESULTS: Of 21 studies included in the review, 12 were meta-analyzed, encompassing 1007 patients (77.5 % male) with 1092 fistulas and 321 abscesses. Six studies reported ADC values for active vs. inactive fistulas, with a pooled sensitivity of 83 % (95%CI 68-92), specificity of 75 % (95%CI 60-85), and AUC of 0.85 (95%CI 0.81-0.87). Pooled ADC cut-offs ranged from 1.105 to 1.109 × 10⁻³ mm2/s. The T2WI + DWI sequence demonstrated the highest diagnostic accuracy, with a pooled sensitivity of 99 % (95%CI 90-100), specificity of 97 % (95%CI 79-100), and an AUC of 1. CONCLUSION: ADC alone is inadequate for reliably distinguishing active from inactive fistulas. T2WI combined with DWI offers superior diagnostic performance, surpassing contrast-enhanced T1WI, and is promising for non-invasive evaluation of perianal fistulas. However, several limitations, such as moderate to high risk of bias and heterogeneity, may bias this conclusion. IMPLICATIONS FOR PRACTICE: T2WI + DWI could become the standard for assessing perianal fistulas, avoiding contrast agents, and benefiting patients contraindicated for Gadolinium-based contrast media. Variability and potential bias across studies warrant further research.", "provenance": [ { "field": "population", "quote": "1007 patients (77.5 % male) with 1092 fistulas and 321 abscesses" }, { "field": "intervention", "quote": "diagnostic accuracy of MRI-based apparent diffusion coefficient (ADC) and diffusion-weighted imaging (DWI)" }, { "field": "comparator", "quote": "surpassing contrast-enhanced T1WI" }, { "field": "primaryOutcome", "quote": "differentiating active from inactive perianal fistulas" }, { "field": "result", "quote": "ADC alone is inadequate for reliably distinguishing active from inactive fistulas. T2WI combined with DWI offers superior diagnostic performance" }, { "field": "n", "quote": "encompassing 1007 patients (77.5 % male) with 1092 fistulas and 321 abscesses" } ] }, { "id": "pmid:39680974", "pmid": "39680974", "doi": "10.5070/D330564433", "nctId": null, "pmcid": null, "title": "Diagnosis of perianal pyramidal protrusion in infants", "firstAuthor": "Margulies", "multipleAuthors": true, "journal": "Dermatol Online J", "year": 2024, "design": "case-series", "n": 1, "nField": "reported", "population": "an infant with a bump near the anus", "intervention": "none (diagnostic evaluation and biopsy)", "comparator": "none", "primaryOutcome": "correct diagnosis of the perianal bump", "result": "the bump was identified as infantile perianal pyramidal protrusion rather than genital warts or molluscum", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single case report, so it cannot show how common or reliable this diagnosis is in general.", "directness": "direct", "limitations": "only one case is described, biopsy findings are described as nonspecific, and the report does not test any treatment.", "followUp": "", "plainFinding": "Harmless skin bump, not warts.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39680974/", "sourceText": "Infantile perianal pyramidal protrusion is characterized by a light pink to skin-colored soft tissue protrusion that is often midline and anterior [A1]to the anus. It most commonly occurs in young females and is relatively asymptomatic. Although biopsies are not routinely done, histopathology is relatively nonspecific and can appear similar to an acrochordon. The differential diagnosis is broad and clinical misdiagnosis as condyloma can lead to unnecessary accusations of child abuse. We report a case of perianal pyramidal protrusion that was originally biopsied owing to concern of condyloma acuminatum or molluscum. This case raises awareness of this diagnosis to help avoid unnecessary procedures and prevent emotional distress that could come for families with an inaccurate diagnosis of condyloma in young children.", "provenance": [ { "field": "population", "quote": "We report a case of perianal pyramidal protrusion that was originally biopsied owing to concern of condyloma acuminatum or molluscum." }, { "field": "intervention", "quote": "Although biopsies are not routinely done, histopathology is relatively nonspecific and can appear similar to an acrochordon." }, { "field": "comparator", "quote": "The differential diagnosis is broad and clinical misdiagnosis as condyloma can lead to unnecessary accusations of child abuse." }, { "field": "primaryOutcome", "quote": "This case raises awareness of this diagnosis to help avoid unnecessary procedures and prevent emotional distress that could come for families with an inaccurate diagnosis of condyloma in young children." }, { "field": "result", "quote": "We report a case of perianal pyramidal protrusion that was originally biopsied owing to concern of condyloma acuminatum or molluscum." }, { "field": "n", "quote": "We report a case of perianal pyramidal protrusion" } ] }, { "id": "pmid:39680482", "pmid": "39680482", "doi": "10.1002/ueg2.12622", "nctId": null, "pmcid": "PMC11999044", "title": "Clinical relevance of calprotectin in patients with perianal fistulas in Crohn's disease and cryptoglandular fistulas", "firstAuthor": "Becker", "multipleAuthors": true, "journal": "United European Gastroenterol J", "year": 2025, "design": "prospective-cohort", "n": 63, "nField": "reported", "population": "patients with an active fistula near the anus undergoing surgery to examine it, some with Crohn's disease (45) and some without (18, cryptoglandular)", "intervention": "measuring calprotectin (an inflammation marker) in stool and in scrapings from the fistula tract", "comparator": "Crohn's disease fistulas compared with non-Crohn's (cryptoglandular) fistulas", "primaryOutcome": "whether stool calprotectin levels can tell Crohn's disease fistulas apart from cryptoglandular fistulas", "result": "Stool calprotectin was significantly higher in Crohn's disease patients than in cryptoglandular fistula patients, and higher calprotectin levels taken directly from the fistula tract correlated with more severe fistula disease", "resultDirection": "unclear", "quality": "moderate", "qualityWhy": "it was a real-time prospective study but included only 63 patients split unevenly between groups, and it tested a diagnostic marker rather than a treatment", "directness": "indirect", "limitations": "small, uneven group sizes (45 vs 18) and it studies a diagnostic marker, not the cause of the bump or a treatment", "followUp": "", "plainFinding": "Marker tells Crohn's fistulas from other fistulas", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39680482/", "sourceText": "BACKGROUND AND AIMS: Previous literature suggests that faecal calprotectin (FC) discriminates Crohn's disease perianal fistulas from cryptoglandular fistulas, irrespective of luminal disease. This study aims to prospectively validate this and analyse if increased local fistula calprotectin levels are associated with fistula characteristics. METHODS: In this prospective study, all consecutive patients with an active perianal fistula undergoing examination under anaesthesia were included. Faecal and fistula tract scraping calprotectin levels were determined. The primary objective was to analyse whether FC levels could be used to differentiate between Crohn's disease and cryptoglandular perianal fistulas. Secondary outcome parameters were the levels of local calprotectin in fistula scrapings and their correlation with fistula characteristics. RESULTS: Sixty-three patients were included in this study (perianal Crohn's disease; 45, cryptoglandular; 18). Faecal calprotectin levels were significantly higher in Crohn's disease patients compared with cryptoglandular fistula (354.3 [58.8-1076.3] vs. 47.3 [14.6-233.6] μg/g, p = 0.003). Faecal calprotectin could accurately discriminate Crohn's disease patients with active luminal disease from patients without luminal disease (median [interquartile range]) (1167.0 [557.0-2806.3] vs. 93.0 [47.5-571.6] μg/g, p = 0.001). Faecal calprotectin was not related to calprotectin levels in fistula scrapings. No fistula characteristic was found to be correlated to scraping calprotectin, but a correlation was found with the TOpCLASS classification system, which stratifies fistulas according to disease severity and outcome: class 2a (amenable for repair), class 2b (symptom control) and class 2c (gradually debilitating disease): 140[31.0-149.0]) μg/g versus 706[198.5-1936] μg/g versus 4000[1337-5894] μg/g, p < 0.001). Scraping calprotectin was also related to pronounced hyperintensity of the fistula tract on MRI in Crohn's disease patients: (69.0[30.0-821.0] vs. 1284.0[204.3-4185.5]; p = 0.01)) and cryptoglandular patients: (30.0[13.5-80.5] vs. 3012.0 [923.8-5021.0]; p = 0.002). CONCLUSION: Crohn's disease and cryptoglandular perianal fistulas differ in FC levels. Local fistula calprotectin production did not explain this difference, implying FC reflects the luminal condition. A correlation exists between scraping calprotectin levels and Crohn's disease fistula severity, which could be clinically relevant for prognostic cohorts and tailored treatment.", "provenance": [ { "field": "n", "quote": "Sixty-three patients were included in this study (perianal Crohn's disease; 45, cryptoglandular; 18)." }, { "field": "population", "quote": "all consecutive patients with an active perianal fistula undergoing examination under anaesthesia" }, { "field": "intervention", "quote": "Faecal and fistula tract scraping calprotectin levels were determined." }, { "field": "comparator", "quote": "Faecal calprotectin levels were significantly higher in Crohn's disease patients compared with cryptoglandular fistula" }, { "field": "primaryOutcome", "quote": "The primary objective was to analyse whether FC levels could be used to differentiate between Crohn's disease and cryptoglandular perianal fistulas." }, { "field": "result", "quote": "Faecal calprotectin levels were significantly higher in Crohn's disease patients compared with cryptoglandular fistula (354.3 [58.8-1076.3] vs. 47.3 [14.6-233.6] μg/g, p = 0.003)." } ] }, { "id": "pmid:39306801", "pmid": "39306801", "doi": "10.1111/ijd.17498", "nctId": null, "pmcid": null, "title": "Differentiating clinical characteristics of perianal inflammatory bowel disease from perianal hidradenitis suppurativa", "firstAuthor": "Yamanaka-Takaichi", "multipleAuthors": true, "journal": "Int J Dermatol", "year": 2025, "design": "retrospective", "n": 263, "nField": "reported", "population": "patients with perianal lesions seen at a clinic, some with hidradenitis suppurativa and some with inflammatory bowel disease", "intervention": "clinical features and a machine-learning model used to identify hidradenitis suppurativa", "comparator": "clinical features in patients with fistulizing perianal inflammatory bowel disease", "primaryOutcome": "which clinical features distinguish perianal hidradenitis suppurativa from perianal IBD", "result": "certain features like tunnels and comedones pointed to HS, while fistulas, abscesses, ulcers and anal tags pointed to IBD, and a 15-feature model was built to tell them apart", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a retrospective chart review without an independent validation group, so it mainly describes patterns rather than proving the diagnostic tool works reliably.", "directness": "direct", "limitations": "retrospective design; findings based on chart review data at a single center", "followUp": "", "plainFinding": "Found features that tell these two apart.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39306801/", "sourceText": "BACKGROUND: Perianal draining tunnels in hidradenitis suppurativa (HS) and perianal fistulizing inflammatory bowel disease (IBD) present diagnostic and management dilemmas. METHODS: We conducted a retrospective chart review of patients with perianal disease evaluated at Mayo Clinic from January 1, 1998, through July 31, 2021. Patients' demographic and clinical data were extracted, and 28 clinical features were collected. After experimenting with several machine learning techniques, random forests were used to select the 15 most important clinical features to construct the diagnostic prediction model to distinguish perianal HS from fistulizing perianal IBD. RESULTS: A total of 263 patients were included (98 with HS, 100 with IBD, and 65 with both IBD and HS). Patients with HS had a higher mean body mass index, a higher smoking rate, and more commonly showed cutaneous manifestations of tunnels and comedones, while fistulas, abscesses, induration, anal tags, ulcers, and anal fissures were more common in patients with IBD. In addition to having lesions in the perianal area, patients with IBD often had lesions in the buttocks and perineum, while those with HS had additional lesions in the axillae and groin. Among the statistically significant features, the 15 most important were identified by random forest: fistula, tunnel, digestive symptom, knife-cut ulcer, perineum, body mass index, age, axilla, abscess, tags, smoking, groin, genital cutaneous edema, erythema, and bilateral/unilateral. CONCLUSIONS: The results of this study may help differentiate perianal lesions, especially perineal HS and fistulizing perineal IBD, and provide promise for a better therapeutic outcome.", "provenance": [ { "field": "n", "quote": "A total of 263 patients were included (98 with HS, 100 with IBD, and 65 with both IBD and HS)." }, { "field": "population", "quote": "We conducted a retrospective chart review of patients with perianal disease evaluated at Mayo Clinic from January 1, 1998, through July 31, 2021." }, { "field": "intervention", "quote": "random forests were used to select the 15 most important clinical features to construct the diagnostic prediction model to distinguish perianal HS from fistulizing perianal IBD" }, { "field": "comparator", "quote": "fistulas, abscesses, induration, anal tags, ulcers, and anal fissures were more common in patients with IBD" }, { "field": "primaryOutcome", "quote": "construct the diagnostic prediction model to distinguish perianal HS from fistulizing perianal IBD" }, { "field": "result", "quote": "Patients with HS had a higher mean body mass index, a higher smoking rate, and more commonly showed cutaneous manifestations of tunnels and comedones, while fistulas, abscesses, induration, anal tags, ulcers, and anal fissures were more common in patients with IBD." } ] }, { "id": "pmid:39283323", "pmid": "39283323", "doi": "10.1007/s00104-024-02151-5", "nctId": null, "pmcid": null, "title": "[Rectovaginal fistulas : Differentiated diagnostics and treatment]", "firstAuthor": "Schwandner", "multipleAuthors": false, "journal": "Chirurgie (Heidelb)", "year": 2024, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with rectovaginal fistulas (abnormal connection between rectum and vagina)", "intervention": "surgical repair of rectovaginal fistula", "comparator": "different surgical techniques compared to each other", "primaryOutcome": "successful closure of the fistula without recurrence", "result": "the abstract does not give specific success rates, but states all surgical procedures have high recurrence rates and often need multiple operations or a stoma", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a general review describing diagnosis and treatment options rather than reporting results from a specific study or trial.", "directness": "direct", "limitations": "no original patient data, numbers, or outcome statistics are reported; it is a descriptive overview of causes, diagnosis, and surgical options", "followUp": "", "plainFinding": "Surgery often needed, frequently recurs.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/39283323/", "sourceText": "Rectovaginal fistulas (RVF) represent less than 5% of anorectal fistulas. The classification of RVF is based on the localization (low vs. high) and the etiology. The most frequent causes of RVF are birth trauma, Crohn's disease, previous surgery and pelvic irradiation. In most cases a clinical diagnostic assessment is sufficient. Additionally, endosonography is a reliable tool to detect sphincter defects. Computed tomography (CT) and magnetic resonance imaging (MRI) are reserved for special situations (e.g., RVF related to anastomotic leakage, after pelvic irradiation or associated with complex perianal fistulizing Crohn's disease). The surgical treatment is primarily oriented to the localization and etiology. Surgical techniques range from local procedures (e.g., endorectal advancement flap repair, transvaginal or transperineal closure) up to more invasive tissue interposition (e.g., bulbocavernosus muscle fat tissue flap or transposition of the gracilis muscle). In \"high\" RVF transabdominal approaches such as coloanal anastomosis, pull through procedures or omental interposition are indicated. All surgical procedures show high recurrence rates. Several operations are mostly necessary and a stoma creation is often required.", "provenance": [ { "field": "population", "quote": "Rectovaginal fistulas (RVF) represent less than 5% of anorectal fistulas." }, { "field": "intervention", "quote": "Surgical techniques range from local procedures (e.g., endorectal advancement flap repair, transvaginal or transperineal closure) up to more invasive tissue interposition (e.g., bulbocavernosus muscle fat tissue flap or transposition of the gracilis muscle)." }, { "field": "comparator", "quote": "In \"high\" RVF transabdominal approaches such as coloanal anastomosis, pull through procedures or omental interposition are indicated." }, { "field": "result", "quote": "All surgical procedures show high recurrence rates. Several operations are mostly necessary and a stoma creation is often required." }, { "field": "primaryOutcome", "quote": "All surgical procedures show high recurrence rates." } ] }, { "id": "pmid:38916210", "pmid": "38916210", "doi": "10.1097/MEG.0000000000002808", "nctId": null, "pmcid": null, "title": "Gastroenterology healthcare in LGBTQ+ individuals", "firstAuthor": "Coelho", "multipleAuthors": true, "journal": "Eur J Gastroenterol Hepatol", "year": 2024, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "LGBTQ+ individuals seen by gastroenterologists", "intervention": "", "comparator": "", "primaryOutcome": "", "result": "The review discusses anal conditions linked to HPV infection, including anal intraepithelial neoplasia (a precursor to anal cancer), anal cancer, and infectious proctitis, but does not study or report on causes of a general anal or buttock bump", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a general narrative review summarizing existing knowledge rather than a study that tested a treatment or measured outcomes, so it cannot show whether anything works.", "directness": "indirect", "limitations": "This is a broad review covering many topics (endoscopy, liver disease, inflammatory bowel disease, proctology) in LGBTQ+ healthcare generally, not a focused study on anal or perianal lumps/bumps or their causes.", "followUp": "", "plainFinding": "Review mentions HPV-related anal lesions, not bumps generally", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/38916210/", "sourceText": "Lesbian, gay, bisexual, transgender, queer, or questioning individuals, as well as those with another diverse identity (LGBTQ+), present specific nuances in healthcare that physicians must consider in clinical practice. Particularly, gastroenterologists are nowadays facing different issues in several fields regarding LGBTQ+ healthcare, such as endoscopy, inflammatory bowel disease, hepatology, and proctology. In this study, the authors provide a practice-oriented and up-to-date review reinforcing the importance of some of the most prevalent pathologies associated with sexuality that gastroenterologists may encounter in their clinical practice. In terms of endoscopy, authors describe the endoscopic findings related to human papillomavirus (HPV) infection: the esophageal squamous papilloma and cell carcinoma; also highlight the importance of retroflexion maneuver during a routine colonoscopy that allows detection of anal intraepithelial neoplasia lesions that can be anal cancer precursors. Regarding inflammatory bowel disease, some considerations are made about the differential diagnosis with infectious proctitis, and the topic of the risk of anal cancer due to HPV infection, in this specific population, is also addressed. Considering hepatology, the authors review the most important issues related to hepatotropic sexually transmitted infections. The authors also make some comments regarding the possibility of drug-induced liver injury in gender-affirming hormone therapy and pre-exposure prophylaxis for HIV prevention. Finally, considering the proctology field, an up-to-date review is performed regarding anal cancer screening, HPV infection and related diseases, and infectious proctitis management.", "provenance": [ { "field": "population", "quote": "Lesbian, gay, bisexual, transgender, queer, or questioning individuals, as well as those with another diverse identity (LGBTQ+)" }, { "field": "result", "quote": "highlight the importance of retroflexion maneuver during a routine colonoscopy that allows detection of anal intraepithelial neoplasia lesions that can be anal cancer precursors" }, { "field": "result", "quote": "an up-to-date review is performed regarding anal cancer screening, HPV infection and related diseases, and infectious proctitis management" } ] }, { "id": "pmid:38858242", "pmid": "38858242", "doi": "10.1007/s00104-024-02114-w", "nctId": null, "pmcid": null, "title": "[Syphilis in surgery-Safe diagnosis and correct treatment]", "firstAuthor": "Sterzing", "multipleAuthors": false, "journal": "Chirurgie (Heidelb)", "year": 2024, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "patients seen in a proctology (anal/rectal) surgical center", "intervention": "recognizing syphilis as a cause of anal/rectal symptoms", "comparator": "none reported", "primaryOutcome": "correctly distinguishing syphilis from other anal and rectal diseases", "result": "syphilis can be mistaken for anal fissures, genital warts, proctitis, or rectal cancer", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a descriptive review of one center's experience without a controlled study design, so it cannot show how well any treatment works.", "directness": "direct", "limitations": "no study methodology, patient numbers, or outcomes data are given; it is based on clinical experience at one center.", "followUp": "", "plainFinding": "Bump may be syphilis, not fissure.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/38858242/", "sourceText": "BACKGROUND: The incidence of syphilis has clearly increased in Germany in recent years. This infectious disease has many forms of manifestation and can imitate surgical diseases. MATERIAL AND METHODS: Comprehensive footage of experiences in a proctological center demonstrates these manifestations and explains the correct management. RESULTS: The likelihood of confusion of syphilis with anal fissures, anogenital warts, proctitis and rectal cancer is high. CONCLUSION: Surgeons can encounter syphilis, the \"chameleon of medicine\" and must know the differential diagnoses.", "provenance": [ { "field": "population", "quote": "Comprehensive footage of experiences in a proctological center demonstrates these manifestations and explains the correct management." }, { "field": "intervention", "quote": "must know the differential diagnoses" }, { "field": "primaryOutcome", "quote": "The likelihood of confusion of syphilis with anal fissures, anogenital warts, proctitis and rectal cancer is high." }, { "field": "result", "quote": "The likelihood of confusion of syphilis with anal fissures, anogenital warts, proctitis and rectal cancer is high." }, { "field": "comparator", "quote": "CONCLUSION: Surgeons can encounter syphilis, the \"chameleon of medicine\" and must know the differential diagnoses." } ] }, { "id": "pmid:38305264", "pmid": "38305264", "doi": "10.61409/V09230551", "nctId": null, "pmcid": null, "title": "[Not Available]", "firstAuthor": "Bergh", "multipleAuthors": true, "journal": "Ugeskr Laeger", "year": 2024, "design": "case-series", "n": 1, "nField": "reported", "population": "young woman with complex anal fistula disease", "intervention": "screening for tuberculosis and biopsies of anal fistula tissue", "comparator": "", "primaryOutcome": "identifying the underlying cause of the fistula disease", "result": "the fistula was found to be caused by extrapulmonary (gastrointestinal) tuberculosis rather than Crohn's disease", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single case report, so it cannot show how common this cause is or how well any treatment works.", "directness": "indirect", "limitations": "single patient case report; no comparison group; findings may not generalize", "followUp": "", "plainFinding": "Anal fistula caused by tuberculosis, not Crohn's.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/38305264/", "sourceText": "Extrapulmonary tuberculosis (TB) in the gastrointestinal tract is a rare, but yet an essential differential diagnosis to patients with complex fistula disease, since the initiation of immunosuppressive therapy for presumed Crohn's disease can lead to a fulminant course of TB. This case report presents a young Danish woman with a progressive complex fistula disease, where cause and treatment were uncovered by interprofessional collaboration between pulmonologists, gastroenterologists and surgeons including a screening test for TB as well as multiple biopsies from the anal fistula tissue.", "provenance": [ { "field": "population", "quote": "a young Danish woman with a progressive complex fistula disease" }, { "field": "intervention", "quote": "a screening test for TB as well as multiple biopsies from the anal fistula tissue" }, { "field": "primaryOutcome", "quote": "cause and treatment were uncovered by interprofessional collaboration between pulmonologists, gastroenterologists and surgeons" }, { "field": "result", "quote": "Extrapulmonary tuberculosis (TB) in the gastrointestinal tract is a rare, but yet an essential differential diagnosis to patients with complex fistula disease" }, { "field": "n", "quote": "a young Danish woman" } ] }, { "id": "pmid:37875369", "pmid": "37875369", "doi": "10.11817/j.issn.1672-7347.2023.220617", "nctId": null, "pmcid": "PMC10930842", "title": "Perianal Paget's disease complicated with lung adenocarcinoma and anal canal carcinoma: A case report and literature review", "firstAuthor": "Zhou", "multipleAuthors": true, "journal": "Zhong Nan Da Xue Xue Bao Yi Xue Ban", "year": 2023, "design": "case-series", "n": 1, "nField": "reported", "population": "a 76-year-old woman with 5 years of abdominal pain and perianal itching", "intervention": "diagnostic workup with colonoscopy, PET/CT, histopathology for a perianal lump", "comparator": "none", "primaryOutcome": "diagnosis and extent of the perianal tumor and related cancers", "result": "the lump was diagnosed as perianal Paget's disease with coexisting lung adenocarcinoma, anal canal cancer, and spread to lymph nodes", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how well treatments work.", "directness": "direct", "limitations": "Only one patient was described, so findings may not apply broadly; this is a case report, not a controlled study.", "followUp": "", "plainFinding": "Rare skin cancer with spread.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/37875369/", "sourceText": "Perianal Paget's disease (PPD) is a rare malignant cutaneous tumor. This paper reported a case of PPD complicated by lung adenocarcinoma and anal canal cancer. The patient, a 76-year-old female, had been experiencing recurrent lower abdominal pain and perianal pruritus for the past 5 years. Upon physical examination, a cauliflower-like neoplasm in size of 5 cm×6 cm was observed on the right perianal skin, with local skin ulceration and a small amount of fluid discharge. The left perianal skin was also involved. In thoracoknee position, a hard mass was palpable in the rectal submucosa at 5-6 points 2 cm from the anal verge. Chest CT revealed multiple lesions in both lungs, indication of metastatic tumors. Further evaluation with fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT) indicated multiple hypermetabolic nodules in the lungs, hypermetabolic lymph nodes throughout the body, early FDG uptake in a small patch of skin on the left hip, and increased FDG uptake in the anorectal region. Histopathological examination confirmed the diagnosis of lung adenocarcinoma. This resulted in the patient being diagnosed with PPD, lung adenocarcinoma, anal canal cancer, and systemic multiple lymph node metastasis. The combination of PPD with gastrointestinal tumors and other metachronous malignant tumors is highly prevalent. Colonoscopy, FDG-PET/CT, histopathology, and immunohistochemistry play crucial roles in early identification of local lymph node and distant involvement, facilitating the evaluation of potential malignant tumors and differential diagnosis. Treating methods for PPD are currently diverse, including postoperative combined or single chemotherapy, radiotherapy, targeted therapy, and photodynamic therapy. As trerapeutical options continue to develop, the extent and efficacy of surgery need to be reassessed.", "provenance": [ { "field": "population", "quote": "a 76-year-old female, had been experiencing recurrent lower abdominal pain and perianal pruritus for the past 5 years" }, { "field": "intervention", "quote": "Further evaluation with fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT)" }, { "field": "comparator", "quote": "This paper reported a case of PPD complicated by lung adenocarcinoma and anal canal cancer." }, { "field": "primaryOutcome", "quote": "Histopathological examination confirmed the diagnosis of lung adenocarcinoma." }, { "field": "result", "quote": "This resulted in the patient being diagnosed with PPD, lung adenocarcinoma, anal canal cancer, and systemic multiple lymph node metastasis." }, { "field": "n", "quote": "a 76-year-old female" } ] }, { "id": "pmid:37649288", "pmid": "37649288", "doi": "10.2174/1573405620666230829150146", "nctId": null, "pmcid": null, "title": "Dual-energy Spectral CT Imaging of Primary Anorectal Malignant Melanoma: A Case Report", "firstAuthor": "Deng", "multipleAuthors": true, "journal": "Curr Med Imaging", "year": 2024, "design": "case-series", "n": 1, "nField": "reported", "population": "an 83-year-old woman with a rectal/anal mass", "intervention": "dual-energy spectral CT imaging to characterize the tumor", "comparator": "no comparator (single case description)", "primaryOutcome": "identifying imaging features that distinguish this tumor from other rectal cancers", "result": "CT and MRI showed uneven thickening of the bowel wall, and imaging values differed from other rectal cancers; biopsy confirmed anorectal malignant melanoma", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how reliable the imaging test is in general.", "directness": "direct", "limitations": "Only one patient was studied, so findings may not apply to others with a similar bump.", "followUp": "", "plainFinding": "Rare melanoma found causing anal mass.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/37649288/", "sourceText": "BACKGROUND: Primary anorectal malignant melanoma (ARMM) is a rare tumor. It is often misdiagnosed as hemorrhoids, polyps or colorectal cancer due to the lack of specificity of their clinical symptoms and imaging manifestations. CASE PRESENTATION: In this study, we reported an 83-year-old female patient with ARMM. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) showed uneven thickening of the intestinal wall about 7.0 cm from the anal margin, and no typical T1 high signal was seen on MRI. Dual-energy spectral CT showed that the effective atomic number (Zeff) of the tumor and the iodine concentration in the arterial phase (AP) and venous phase (VP) were different from other rectal malignancies reported in the previous literature. Sigmoidoscopy showed a large polypoid mass approximately 7.0 cm from the anal verge. Immunohistochemical staining showed that about 60% of Melan A and HMB-45 were positive, S-100 protein and Ki-67 were positive, and the pathological diagnosis was ARMM. CONCLUSION: This was the first dual-energy spectral CT imaging report of ARMM. The Zeff and iodine concentration in the arterial phase and venous phase could help distinguish between ARMM and other rectal malignancies.", "provenance": [ { "field": "population", "quote": "an 83-year-old female patient with ARMM" }, { "field": "intervention", "quote": "Dual-energy spectral CT showed that the effective atomic number (Zeff) of the tumor and the iodine concentration in the arterial phase (AP) and venous phase (VP)" }, { "field": "comparator", "quote": "different from other rectal malignancies reported in the previous literature" }, { "field": "primaryOutcome", "quote": "could help distinguish between ARMM and other rectal malignancies" }, { "field": "result", "quote": "Computed tomography (CT) and Magnetic Resonance Imaging (MRI) showed uneven thickening of the intestinal wall about 7.0 cm from the anal margin" }, { "field": "result", "quote": "the pathological diagnosis was ARMM" }, { "field": "n", "quote": "an 83-year-old female patient with ARMM" } ] }, { "id": "pmid:36812282", "pmid": "36812282", "doi": null, "nctId": null, "pmcid": null, "title": "Dermoscopy of Pilonidal Cyst Disease: A Case-series", "firstAuthor": "Uzuncakmak", "multipleAuthors": true, "journal": "Acta Dermatovenerol Croat", "year": 2022, "design": "case-series", "n": 4, "nField": "reported", "population": "young men with a single bump near the buttock crease, diagnosed with pilonidal cyst disease", "intervention": "dermoscopy (magnified skin surface examination) of the bump", "comparator": "none; descriptive comparison to dermoscopy patterns of other cystic skin lesions", "primaryOutcome": "characteristic dermoscopic (magnified visual) features of pilonidal cyst bumps", "result": "The bumps showed a pink background with central ulceration or yellow/white areas, surrounded by dotted, glomerular, or hairpin-shaped blood vessels, patterns that differ from other cysts like epidermal cysts", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a tiny descriptive report of only four patients with no comparison group, so it cannot show whether any treatment works, only describe how these bumps look under magnification.", "directness": "direct", "limitations": "Very small number of cases (4), descriptive only, no control group, and the authors state dermoscopic knowledge of this condition is scarce and based on very few prior cases.", "followUp": "", "plainFinding": "Describes look of pilonidal cyst bumps.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/36812282/", "sourceText": "Dear Editor, Pilonidal cyst disease is a common, acquired, inflammatory disease predominantly affecting the natal clefts of the buttocks (1,2). The disease has a predilection for men, with a male-to-female ratio of 3-4:1. Patients are generally young, towards the end of second decade of life. Lesions are initially asymptomatic, while the development of complications such as abscess formation is associated with pain and discharge (1). Patients with pilonidal cyst disease may present to dermatology outpatient clinics, especially when the disease is asymptomatic. Herein we report the dermoscopic features of four cases of pilonidal cyst disease encountered in our dermatology outpatient clinic. Four patients who presented to our dermatology outpatient department for evaluation of a solitary lesion on buttocks were diagnosed with pilonidal cyst disease based on clinical and histopathological examination. All patients were young men and presented with solitary, firm, pink, nodular lesions in the region in proximity to the gluteal cleft (Figure 1, a, c, e). Dermoscopy of the first patient revealed a red structureless area in the central part of the lesion, consistent with ulceration. Additionally, white lines reticular as well as glomerular vessels were present at the periphery on the pink homogenous background (Figure 1, b). In the second patient, a yellow structureless central ulcerated area was surrounded by linearly arranged multiple dotted vessels at the periphery on a homogenous pink background (Figure 1, d). In the third patient, dermoscopy revealed a central yellowish structureless area with peripherally arranged hairpin and glomerular vessels (Figure 1, f). Lastly, similar to the third case, dermoscopic examination of the fourth patient showed a pink homogenous background with yellow and white structureless areas and peripherally arranged hairpin and glomerular vessels (Figure 2). Demographics and clinical features of the four patients are summarized in Table 1. Histopathology of all our cases revealed epidermal invagination and sinus formation, free hair shafts, and chronic inflammation with multinuclear giant cells. Histopathological slides of the first case can be seen in Figure 3 (a-b). All patients were referred to general surgery for treatment. The current knowledge pertaining to dermoscopy of pilonidal cyst disease is scarce in the dermatologic literature, and was previously evaluated in only two cases. Similar to our cases, the authors reported the presence of a pink-colored background, radial white lines, central ulceration, and multiple peripherally arranged dotted vessels (3). The dermoscopic features of pilonidal cysts differ from other epithelial cysts and sinuses. As for epidermal cysts, the presence of punctum and an ivory-white background color have been reported as characteristic dermoscopic findings (4,5). In addition, unruptured epidermal cysts reveal arborizing telangiectasia, while the ruptured epidermal cysts show peripheral linear branched vessels (4,5). A peripheral brown rim, linear vessels, and yellow homogenous background of the entire lesion have been reported as dermoscopic features of steatocystoma multiplex as well as milias (5). Of note, other cystic lesions mentioned above are typified by linear vessels, whereas pilonidal cysts present dotted, glomerular, and hairpin vessels. Pilonidal cyst disease must also be considered in the differential diagnosis of pink nodular lesions, along with amelanotic melanoma, basal cell carcinoma, squamous cell carcinoma, pyogenic granuloma, lymphoma, and pseudolymphoma (3). Based on our cases and the two cases in the literature, pink background, central ulceration, peripherally arranged dotted vessels, and white lines seem to be common dermoscopic features of pilonidal cyst disease. Our observations demonstrate that central yellowish structureless areas along with peripheral hairpin and glomerular vessels are also among the dermoscopic features of pilonidal cyst disease. In conclusion, pilonidal cysts can be easily differentiated from other skin tumors by the aforementioned dermoscopic features, and the diagnosis in patients clinically suspected of having pilonidal cyst can be supported by dermoscopy. However, there is need for further studies in order to better characterize typical dermoscopic features of this disease and their frequency.", "provenance": [ { "field": "population", "quote": "All patients were young men and presented with solitary, firm, pink, nodular lesions in the region in proximity to the gluteal cleft" }, { "field": "n", "quote": "Four patients who presented to our dermatology outpatient department for evaluation of a solitary lesion on buttocks were diagnosed with pilonidal cyst disease" }, { "field": "intervention", "quote": "Herein we report the dermoscopic features of four cases of pilonidal cyst disease encountered in our dermatology outpatient clinic." }, { "field": "comparator", "quote": "The dermoscopic features of pilonidal cysts differ from other epithelial cysts and sinuses." }, { "field": "primaryOutcome", "quote": "Demographics and clinical features of the four patients are summarized in Table 1." }, { "field": "result", "quote": "Based on our cases and the two cases in the literature, pink background, central ulceration, peripherally arranged dotted vessels, and white lines seem to be common dermoscopic features of pilonidal cyst disease." }, { "field": "limitations", "quote": "The current knowledge pertaining to dermoscopy of pilonidal cyst disease is scarce in the dermatologic literature, and was previously evaluated in only two cases." } ] }, { "id": "pmid:36402562", "pmid": "36402562", "doi": "10.33699/PIS.2022.101.10.499-503", "nctId": null, "pmcid": null, "title": "Inflammatory cloacogenic polyp in an adolescent - case report and review of the literature", "firstAuthor": "Reissnerova", "multipleAuthors": true, "journal": "Rozhl Chir", "year": 2022, "design": "case-series", "n": 1, "nField": "reported", "population": "14-year-old boy with intermittent rectal bleeding", "intervention": "surgical removal of the polyp (transanal endoscopic microsurgery)", "comparator": "none", "primaryOutcome": "removal of the lesion and resolution of symptoms", "result": "polyp removed surgically and diagnosed as inflammatory cloacogenic polyp; no further problems after surgery", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how well treatment works in general", "directness": "direct", "limitations": "only one patient described, no comparison group, and findings cannot be generalized", "followUp": "", "plainFinding": "Polyp removed, no more bleeding", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/36402562/", "sourceText": "Inflammatory cloacogenic polyp is a rare lesion arising in the anal transitional zone. It is usually benign, but rare cases of malignant transformation are known. It is most commonly seen in the adult population from the fourth to the sixth decade of life, but it can be found among children and adolescents as well. The most common clinical symptoms include rectal bleeding and altered bowel habits, although some patients may be asymptomatic. Treatment involves transanal endoscopic microsurgery followed by a bowel regimen with stool softeners. We present the case report of a 14-year-old boy presenting with intermittent rectal bleeding in whom a polypoid lesion was found during digital rectal examination. The patient underwent proctosigmoidoscopy during which the suspicious lesion was removed by transanal endoscopic microsurgery and the histological diagnosis of inflammatory cloacogenic polyp was established. In the postoperative period, the patient was without any further problems. In this case report, we want to raise awareness of this rare diagnosis and emphasize its place in the differential diagnosis of rectal bleeding across all age groups.", "provenance": [ { "field": "n", "quote": "a 14-year-old boy presenting with intermittent rectal bleeding" }, { "field": "population", "quote": "a 14-year-old boy presenting with intermittent rectal bleeding in whom a polypoid lesion was found during digital rectal examination" }, { "field": "intervention", "quote": "the suspicious lesion was removed by transanal endoscopic microsurgery" }, { "field": "comparator", "quote": "Treatment involves transanal endoscopic microsurgery followed by a bowel regimen with stool softeners." }, { "field": "primaryOutcome", "quote": "the histological diagnosis of inflammatory cloacogenic polyp was established" }, { "field": "result", "quote": "In the postoperative period, the patient was without any further problems." } ] }, { "id": "pmid:35741735", "pmid": "35741735", "doi": "10.3390/genes13060973", "nctId": null, "pmcid": "PMC9223108", "title": "Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study", "firstAuthor": "Azab", "multipleAuthors": true, "journal": "Genes (Basel)", "year": 2022, "design": "case-series", "n": 1, "nField": "reported", "population": "a young girl with fever, diarrhea, skin tags and anal fissures who later developed neurological and lung decline, dying at age three and a half", "intervention": "genetic testing to find the cause of her combined bowel and neurological disease", "comparator": "none", "primaryOutcome": "identifying the genetic cause linking her bowel symptoms (including anal fissures and skin tags) to her fatal neurological disease", "result": "gene variants in both NPC1 and NOD2 were found, suggesting a combined genetic cause of her Niemann-Pick disease with Crohn's-like bowel symptoms", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common or reliable this cause is for most people with similar bumps", "directness": "indirect", "limitations": "only one patient was studied, the diagnosis was never fully confirmed clinically, and the genetic findings are proposed rather than proven", "followUp": "", "plainFinding": "Rare genetic disease, not typical cause.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/35741735/", "sourceText": "Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in NOD2. Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient's clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient's subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype-genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1. In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of NOD2 and NPC1.", "provenance": [ { "field": "n", "quote": "we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD" }, { "field": "population", "quote": "she presented with recurrent skin tags and anal fissures" }, { "field": "intervention", "quote": "we utilized a genetic analysis approach to guide the diagnosis of this vague condition" }, { "field": "comparator", "quote": "Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea." }, { "field": "primaryOutcome", "quote": "Our phenotype-genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1." }, { "field": "result", "quote": "we propose a potential composite digenic impact of these two genes as the underlying molecular etiology" } ] }, { "id": "pmid:35578943", "pmid": "35578943", "doi": null, "nctId": null, "pmcid": null, "title": "[A Case of Fournier's Gangrene during Second-Line IRIS plus Bevacizumab Chemotherapy for Rectal and Anal Canal Cancer]", "firstAuthor": "Imamura", "multipleAuthors": true, "journal": "Gan To Kagaku Ryoho", "year": 2022, "design": "case-series", "n": 1, "nField": "reported", "population": "a 52-year-old man with rectal and anal canal cancer who had already had surgery and was on chemotherapy for cancer that had spread", "intervention": "second-line IRIS plus bevacizumab chemotherapy for cancer", "comparator": "none reported", "primaryOutcome": "cause of fever and swelling of the buttock", "result": "the swelling was diagnosed as Fournier's gangrene, a severe infection requiring emergency surgery", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common or likely this cause is for other people.", "directness": "indirect", "limitations": "Single case report in a cancer patient on chemotherapy; not about typical causes of a bump on the buttock or anus.", "followUp": "", "plainFinding": "Rare severe infection, not a typical bump.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/35578943/", "sourceText": "A 52-year-old man diagnosed with Stage ⅢA rectal and anal canal cancer underwent abdominal perineal resection using Miles's method. Two years later, local recurrence and lung metastases were detected using contrasted CT imaging. First-line chemotherapy of XELOX was administered for 4 months until the disease progressed and lung metastases developed. After 4 courses of second-line IRIS plus bevacizumab chemotherapy, fever and swelling of the right buttock appeared; he visited and was admitted to our hospital. A CT scan revealed a pelvic abscess which resulted in septic shock. Swelling and pain extended to the right scrotum, and acute necrotizing fasciitis was suspected, and emergency surgery was performed. An incision was made from the right buttock to the right scrotum, bloody purulent drainage with a foul odor was observed, and a diagnosis of Fournier's gangrene was made. Although typical CT findings such as emphysema due to gas-producing bacteria were not observed in this case, early diagnosis and intervention of systemic management including early surgical drainage and operation were effective. For pelvic infections occurring during bevacizumab chemotherapy, Fournier's gangrene should considered for differential diagnosis, even if CT findings are atypical.", "provenance": [ { "field": "n", "quote": "A 52-year-old man diagnosed with Stage ⅢA rectal and anal canal cancer" }, { "field": "population", "quote": "A 52-year-old man diagnosed with Stage ⅢA rectal and anal canal cancer underwent abdominal perineal resection using Miles's method." }, { "field": "intervention", "quote": "second-line IRIS plus bevacizumab chemotherapy" }, { "field": "primaryOutcome", "quote": "fever and swelling of the right buttock appeared" }, { "field": "result", "quote": "a diagnosis of Fournier's gangrene was made" }, { "field": "comparator", "quote": "First-line chemotherapy of XELOX was administered for 4 months until the disease progressed" } ] }, { "id": "pmid:34645567", "pmid": "34645567", "doi": "10.1016/j.pathol.2021.07.003", "nctId": null, "pmcid": null, "title": "HPV-driven anal neoplasia: review and recent developments", "firstAuthor": "Assarzadegan", "multipleAuthors": true, "journal": "Pathology", "year": 2022, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "men and women with HPV-related growths in the anal canal", "intervention": "not applicable (pathology review article)", "comparator": "", "primaryOutcome": "how to classify and diagnose HPV-related anal lesions under the microscope", "result": "The article describes the range of appearances of HPV-related squamous and glandular anal lesions and discusses newly described non-squamous HPV-driven tumours, without testing a treatment or reporting outcome rates", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a descriptive review of pathology findings, not a study testing a treatment or comparing outcomes, so it cannot show whether anything works.", "directness": "indirect", "limitations": "Abstract does not describe methods, number of cases, or any quantitative results; it is a narrative overview of diagnostic categories, not a study of a specific bump or its causes/treatment.", "followUp": "", "plainFinding": "Describes types of HPV-related anal growths.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/34645567/", "sourceText": "A host of human papillomavirus (HPV)-associated squamous and glandular lesions may be identified in the anal canal in men and women. Given their relative rarity, familiarity with the morphological spectrum associated with HPV-driven anal neoplasia is important for proper identification and diagnosis. In this article, we review the classification and basic histopathological features of HPV-related squamous intraepithelial and invasive lesions as well as associated pitfalls. In addition, we provide an update on recently described HPV-driven, non-squamous tumours. As our experience with these lesions evolves, we expect the histological spectrum to further expand, particularly as it relates to non-squamous HPV-driven neoplasia.", "provenance": [ { "field": "population", "quote": "identified in the anal canal in men and women" }, { "field": "intervention", "quote": "we review the classification and basic histopathological features of HPV-related squamous intraepithelial and invasive lesions as well as associated pitfalls" }, { "field": "primaryOutcome", "quote": "familiarity with the morphological spectrum associated with HPV-driven anal neoplasia is important for proper identification and diagnosis" }, { "field": "result", "quote": "we provide an update on recently described HPV-driven, non-squamous tumours" } ] }, { "id": "pmid:34050675", "pmid": "34050675", "doi": "10.1093/milmed/usab211", "nctId": null, "pmcid": null, "title": "Rectal Bleeding in the Clinic", "firstAuthor": "Mangalindan", "multipleAuthors": true, "journal": "Mil Med", "year": 2023, "design": "case-series", "n": 1, "nField": "reported", "population": "51-year-old woman with painful rectal bleeding", "intervention": "none (diagnostic case report)", "comparator": "none", "primaryOutcome": "correct diagnosis of cause of rectal bleeding/bump", "result": "Diagnosis of anal cancer was delayed due to missed and misdiagnosed rectal exams", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how well exams work in general.", "directness": "direct", "limitations": "Single case report; delayed and misdiagnosed exams; not a study of treatment effectiveness.", "followUp": "", "plainFinding": "Anal cancer missed by exam.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/34050675/", "sourceText": "Anal cancer is a rare malignancy with an estimated 8,580 new cases each year in the USA where hematochezia, a common condition, is often the initial presenting sign. We describe a 51-year-old woman who presented with painful hematochezia, with a delayed diagnosis of anal cancer in the setting of missed and misdiagnosed digital rectal exams in an otherwise low-risk patient. This case highlights the importance of maintaining a broad differential diagnosis for hematochezia and the utility of thorough physical exams.", "provenance": [ { "field": "population", "quote": "a 51-year-old woman who presented with painful hematochezia" }, { "field": "intervention", "quote": "missed and misdiagnosed digital rectal exams in an otherwise low-risk patient" }, { "field": "comparator", "quote": "missed and misdiagnosed digital rectal exams in an otherwise low-risk patient" }, { "field": "primaryOutcome", "quote": "delayed diagnosis of anal cancer" }, { "field": "result", "quote": "a delayed diagnosis of anal cancer in the setting of missed and misdiagnosed digital rectal exams" }, { "field": "n", "quote": "a 51-year-old woman" } ] }, { "id": "pmid:33834999", "pmid": "33834999", "doi": null, "nctId": null, "pmcid": null, "title": "Unusual Clinical Presentation of Giant Extragenital Condyloma", "firstAuthor": "Jovic", "multipleAuthors": true, "journal": "Acta Dermatovenerol Croat", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "70-year-old man with a wart-like skin growth on his abdomen, not genital area", "intervention": "not applicable (case report describing diagnosis)", "comparator": "none", "primaryOutcome": "identifying the cause of the skin lesion and successful treatment", "result": "diagnosed as a wart-type infection (HPV type 6) causing condyloma, removed by electrosurgery", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report so it cannot show how common this is or what causes it in general", "directness": "indirect", "limitations": "single case, unusual extragenital location on the abdomen rather than the anus/buttock area asked about", "followUp": "", "plainFinding": "Rare HPV wart found on abdomen, not anus.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33834999/", "sourceText": "Dear editor, Condylomata accuminatum (CA) is a human papillomavirus (HPV) related sexually transmitted infection (STI), clinically characterized by solitary or even clustered dark red or pink lesions solely affecting the anogenital area (1). CA involving the extragenital, non-mucosal skin has been sporadically reported (2-4). Diagnosis of CA is usually straightforward when the lesions are located on the anogenital area. However, involvement of extragenital skin may pose a diagnostic challenge. Herein, we report a rare case of giant linear extragenital CA without coexisting genital lesions, diagnosed with a synergic intervention of dermatoscopy and clinics. A 70-year-old Caucasian man was referred to our department for an atypical asymptomatic seborrheic keratosis presenting as a linear verrucous plaque (20 × 2 cm) with few solitary reddish satellite papules on the abdomen (Figure 1, a). No similar lesions were present in both cutaneous and mucosal districts. Medical history was unremarkable, and the patient denied having recent sexual intercourse or any history of condylomas. Remarkably, the patient underwent a diet in the last 8 months that resulted in a loss of 30 kg. We employed dermatoscopy to further assess the lesions, highlighting a finger-like pattern on the main lesion (Figure 1, c), while satellite lesions presented a mosaic pattern (Figure 1, b). The clinical appearance and these dermatoscopic findings were suggestive of condyloma acuminatum (CA), but due to its extraordinary presentation we also performed an incisional biopsy. Histopathological examination reviled features compatible with the diagnosis of CA (Figure 1, d, e). To better characterized the HPV genotype (high-risk and low-risk HPV) a polymerase chain reaction (PCR) from lesional tissue sample was performed and found HPV type 6 positivity. The lesions were successfully removed by electrosurgery. Regular follow-up was scheduled. Sexually transmitted infections (STIs) were also screened, namely syphilis, gonorrhea, chlamydia trachomatis, and HIV status. In addition, laboratory tests and imaging examinations (radiography of the chest and ultrasound examination of the abdomen) revealed no pathological findings. CA involving the extragenital skin has been reported within intertriginous areas, including the inframammary fold, the groin, and the axillary vault, as well as mucosal surface such as intraoral and conjunctival mucosa (1-5). In most cases, extragenital CA coexisted with genital lesions. Staples et al. reported three obese patients with extragenital CA on the skin of the abdominal pannus (3). However, all of the patients had involvement of the inguinal folds, from where the CA had extended. Generally, CA is acquired by genital, oral, or anal sexual contact. Among the wide spectrum of HPV genotypes, types 6 and 11 are responsible of 90% of CA (1). Our paradigmatic case allows us reflect on the concept of transitory immune dysregulation due to a significant amount of weight loss, and the position of the lesions in particular seems to suggest that frictional triggers may disrupt the barrier integrity, leading to higher probability of infection. Dermoscopy is a noninvasive diagnostic tool with a significant role in the assessment of melanocytic and non-melanocytic skin tumors. Furthermore, the utility of dermatoscopy has expanded to the field of inflammatory and infectious skin disease, where dermoscopy enhances the differential diagnosis between them. Seborrheic keratosis, as the most common benign epithelial tumor, can occur anywhere in the skin excluding the palms, soles, and mucosa (6). In the anogenital area, seborrheic keratosis usually resembles CA. However, dermatoscopically, seborrheic keratosis can be immediately identified by the presence of milia-like cysts, comedo-like openings, fissures, finger-print structures, and sharply demarcated borders (6). In contrast, reports of CA dermoscopy suggested four different dermoscopic patterns: fingerlike, mosaic, knoblike, and the most commonly, an unspecific pattern (7). Our case showed that dermoscopy of extragenital CA presented a mosaic pattern in an early stage of CA, while fully developed lesions revealed a fingerlike pattern, as has previously been reported by Dong et al. (7), where two different stages of clinical development of CA exhibit distinctive dermoscopic patterns, which correlates with our case. We did not observe the typical dermoscopic features of seborrheic keratosis. CA arising in an extragenital area is very rare and perhaps also underestimated. Thus, dermatologists should be aware of this unusual presentation even in the absence of genital HPV involvement. Moreover, dermoscopy may facilitate CA recognition in a such uncommon location. To our knowledge, this is the first report of extragenital condyloma acuminatum documented dermoscopically.", "provenance": [ { "field": "population", "quote": "A 70-year-old Caucasian man was referred to our department for an atypical asymptomatic seborrheic keratosis presenting as a linear verrucous plaque (20 × 2 cm) with few solitary reddish satellite papules on the abdomen" }, { "field": "n", "quote": "A 70-year-old Caucasian man was referred to our department" }, { "field": "intervention", "quote": "The lesions were successfully removed by electrosurgery." }, { "field": "comparator", "quote": "Regular follow-up was scheduled." }, { "field": "primaryOutcome", "quote": "Diagnosis of CA is usually straightforward when the lesions are located on the anogenital area. However, involvement of extragenital skin may pose a diagnostic challenge." }, { "field": "result", "quote": "a polymerase chain reaction (PCR) from lesional tissue sample was performed and found HPV type 6 positivity. The lesions were successfully removed by electrosurgery." } ] }, { "id": "pmid:33559550", "pmid": "33559550", "doi": "10.1308/rcsann.2020.7008", "nctId": null, "pmcid": "PMC9773864", "title": "Aggressive angiomyxoma of the ischioanal fossa in a post-menopausal woman", "firstAuthor": "Peterknecht", "multipleAuthors": true, "journal": "Ann R Coll Surg Engl", "year": 2021, "design": "case-series", "n": 1, "nField": "reported", "population": "65-year-old post-menopausal woman with buttock pain, initially thought to have a perianal abscess", "intervention": "surgical removal of the lesion under anaesthesia", "comparator": "none", "primaryOutcome": "diagnosis of the lump after examination and pathology testing", "result": "the lump was found to be a rare soft-tissue tumour called aggressive angiomyxoma, not an abscess", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report with a literature review, so it cannot show whether any treatment works.", "directness": "indirect", "limitations": "Only one patient is described, with a review of just eight other reported cases, so no general conclusions about treatment or outcomes can be drawn.", "followUp": "", "plainFinding": "Rare tumour mistaken for an abscess.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33559550/", "sourceText": "Aggressive angiomyxoma is a rare mesenchymal tumour, primarily arising in the soft tissue of the pelvis and perineum in women of reproductive age. There is a paucity of evidence on optimal management because of the rarity of these tumours, but the consensus has been for surgical excision. We present the case of a 65-year-old woman who was admitted with left-sided buttock pain and initially diagnosed with a perianal abscess. She underwent examination under anaesthesia rectum with surgical excision of the lesion, subsequent histopathological and immunochemical analysis was suggestive of aggressive angiomyxoma. To complement our case report, we also present a literature review focusing on aggressive angiomyxoma in the ischioanal fossa (also known as the ischiorectal fossa) with only eight cases of primary aggressive angiomyxoma involving the ischioanal fossa documented to date. The primary aims of this case report and literature review are to familiarise clinicians with the clinical, histopathological and immunochemical features of these tumours, and to increase appreciation that despite the rarity of aggressive angiomyxoma, it might be considered in the differential diagnosis of ischioanal lesions.", "provenance": [ { "field": "population", "quote": "a 65-year-old woman who was admitted with left-sided buttock pain and initially diagnosed with a perianal abscess" }, { "field": "intervention", "quote": "She underwent examination under anaesthesia rectum with surgical excision of the lesion" }, { "field": "comparator", "quote": "the consensus has been for surgical excision" }, { "field": "primaryOutcome", "quote": "subsequent histopathological and immunochemical analysis was suggestive of aggressive angiomyxoma" }, { "field": "result", "quote": "subsequent histopathological and immunochemical analysis was suggestive of aggressive angiomyxoma" }, { "field": "n", "quote": "We present the case of a 65-year-old woman" } ] }, { "id": "pmid:33516222", "pmid": "33516222", "doi": "10.1186/s12893-021-01073-x", "nctId": null, "pmcid": "PMC7847558", "title": "Perianal and perineal rhabdomyosarcomas: a retrospective multicenter study of 35 cases", "firstAuthor": "Guo", "multipleAuthors": true, "journal": "BMC Surg", "year": 2021, "design": "retrospective", "n": 35, "nField": "reported", "population": "patients with a perianal or perineal mass later diagnosed with rhabdomyosarcoma (a rare soft tissue cancer)", "intervention": "no single intervention tested; study described diagnosis and various treatments (surgery, chemo/radiotherapy) used in these patients", "comparator": "none (descriptive case series, no comparison group)", "primaryOutcome": "diagnostic accuracy (misdiagnosis rate) and survival outcomes", "result": "Most patients presented with a perianal mass, often painful, and 16 of 20 painful cases were initially misdiagnosed as perianal abscess; overall survival was poor, with 32% alive at 2 years and 24% at 5 years", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a small retrospective collection of 35 cases (partly from literature review) without a comparison group, so it can only describe patterns, not prove cause or treatment effect.", "directness": "direct", "limitations": "Retrospective design, small number of cases pooled from a single center and prior literature, no control group, risk of selection and reporting bias.", "followUp": "", "plainFinding": "Rare cancerous lump, often misdiagnosed as abscess.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33516222/", "sourceText": "BACKGROUND: Perianal/perineal rhabdomyosarcomas (PRMS) are easily misdiagnosed soft tissue tumours with a poor prognosis. This study was designed to analyze the clinical, diagnostic, pathological and prognostic features of PRMS, and to explore currently available therapeutic modalities. METHODS: Clinical data of PRMS patients admitted to the Sixth Affiliated Hospital and the Cancer Center of Sun Yat-sen University and from related Chinese literature published from 1987 to 2018 were collected and analyzed. The Chi-square test was used to evaluate the differences between each group. The Kaplan-Meier methods were applied to estimate and compare survival rates. RESULTS: A total of 35 patients were included in this study; 20 identified within related Chinese literatures and 15 from our center admitted during the period of 1997-2019. Out of these cases, 34 presented with perianal masses and the remaining one manifested as an inguinal mass. Moreover, 20 patients complained of pain and 16 of them were misdiagnosed as perianal abscesses, in which the presence of pain contributed to the misdiagnosis (p < 0.05). The average time interval between symptom onset and pathological diagnosis was 3.1 months. Next, 13 cases were classified into IRS group III/IV and 20 cases into stages 3/4. Additionally, 14 and 9 cases received the pathological diagnoses of embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma, respectively. Regarding the patients' survival rates, five patients survived for more than 2 years, and three of them survived for more than 5 years. The overall 2 years and 5 years survival rates were 32% and 24%, respectively. The symptom of pain and misdiagnosis both contributed to the poor prognosis in these patients (p < 0.05). MRI showed that the PRMS were closely related to external anal sphincter in 10 cases. CONCLUSION: PRMS are easily misdiagnosed lesions, which often leads to an unfavourable outcome in affected patients. Patients with painful perianal masses should be evaluated to exclude PRMS. MRI revealed that PRMS are closely related to the external anal sphincter. Multidisciplinary management is recommended in the treatment of PRMS.", "provenance": [ { "field": "n", "quote": "A total of 35 patients were included in this study" }, { "field": "population", "quote": "34 presented with perianal masses and the remaining one manifested as an inguinal mass" }, { "field": "intervention", "quote": "Multidisciplinary management is recommended in the treatment of PRMS." }, { "field": "comparator", "quote": "The Chi-square test was used to evaluate the differences between each group." }, { "field": "primaryOutcome", "quote": "to analyze the clinical, diagnostic, pathological and prognostic features of PRMS" }, { "field": "result", "quote": "16 of them were misdiagnosed as perianal abscesses, in which the presence of pain contributed to the misdiagnosis (p < 0.05)" }, { "field": "result", "quote": "The overall 2 years and 5 years survival rates were 32% and 24%, respectively." } ] }, { "id": "pmid:33318271", "pmid": "33318271", "doi": "10.1136/bcr-2020-236601", "nctId": null, "pmcid": "PMC7737037", "title": "Radiation-induced sarcoma presenting as a gluteal abscess: a diagnostic and therapeutic challenge", "firstAuthor": "Mahalingam", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "middle-aged woman treated with chemo-radiation for cervical cancer 5 years earlier, who developed a gluteal lump", "intervention": "diagnostic workup and treatment of gluteal abscess-like lesion", "comparator": "none", "primaryOutcome": "diagnosis of the gluteal mass and control of bleeding", "result": "the gluteal abscess was found to be a radiation-induced sarcoma; bleeding was controlled with radiation after surgery and other treatments failed", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show what causes bumps in general or how common this is.", "directness": "indirect", "limitations": "single case report; findings cannot be generalized to typical gluteal or anal bumps.", "followUp": "", "plainFinding": "Rare cancer causing the bump.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33318271/", "sourceText": "Sarcomas are a rare and fatal treatment complication following radiotherapy. Radiation-induced sarcomas (RISs) presenting as a gluteal abscess is a rarity, accounting for its varied presentation. We present a case of a middle-aged woman, post-chemo-radiation for carcinoma cervix 5 years ago, who presented with gluteal abscess. Achieving haemostasis post incision and drainage under anaesthesia was a challenge. On further evaluation, she was diagnosed with radiation-induced gluteal soft tissue sarcoma. Haemostasis was achieved after radiation following failed attempts of surgical and radiological interventions. She is currently planned for chemotherapy. Cancer survivors have an increased risk of developing a second malignancy following radiation treatment. RISs are highly aggressive, exhibit a varied clinical presentation and pose a challenge in early diagnosis; thus, have a poor outcome. RISs pose a diagnostic challenge; any dubious lesion in the previously irradiated field should raise suspicion and prompt aggressive management.", "provenance": [ { "field": "population", "quote": "a middle-aged woman, post-chemo-radiation for carcinoma cervix 5 years ago, who presented with gluteal abscess" }, { "field": "intervention", "quote": "Achieving haemostasis post incision and drainage under anaesthesia was a challenge. On further evaluation, she was diagnosed with radiation-induced gluteal soft tissue sarcoma." }, { "field": "comparator", "quote": "failed attempts of surgical and radiological interventions" }, { "field": "primaryOutcome", "quote": "Achieving haemostasis post incision and drainage under anaesthesia was a challenge." }, { "field": "result", "quote": "Haemostasis was achieved after radiation following failed attempts of surgical and radiological interventions." }, { "field": "n", "quote": "We present a case of a middle-aged woman" } ] }, { "id": "pmid:33216045", "pmid": "33216045", "doi": "10.3233/NPM-200523", "nctId": null, "pmcid": null, "title": "Anal skin tag - An unusual presenting feature of food protein-induced allergic proctocolitis in a neonate", "firstAuthor": "Zaki", "multipleAuthors": true, "journal": "J Neonatal Perinatal Med", "year": 2021, "design": "case-series", "n": 1, "nField": "reported", "population": "a 26-day-old breastfed baby with blood in stool", "intervention": "amino acid formula after elimination diet and hydrolyzed formula failed", "comparator": "elimination diet in mother and extensively hydrolysed formula", "primaryOutcome": "resolution of bloody stools and anal skin tag diagnosis", "result": "baby fully recovered after switching to amino acid formula", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single case report, so it cannot show whether this applies to other babies.", "directness": "direct", "limitations": "Single case report with no control group or long-term follow-up details beyond recovery.", "followUp": "", "plainFinding": "Allergy-related rectal bleeding resolved with special formula.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33216045/", "sourceText": "BACKGROUND: Anal skin tags are commonly seen with anal fissures, haemorrhoids, inflammatory bowel disease and their association have been extensively studied. However the presence of anal skin tag in food protein-induced allergic proctocolitis has rarely been reported in literature. We report a neonate with food protein-induced allergic proctocolitis who presented with blood in stool and anal skin tag. CASE DESCRIPTION: A 26-day-old baby presented with history of passing intermittent blood in stools for two days. The baby was exclusively breast-fed and was well-appearing with no failure to thrive. Two anal skin tags were present but there was no evidence of anal fissures or haemorrhoids. The biopsy of anal skin tag showed fibroepithelial polyp. Colonoscopy was suggestive of food protein-induced allergic proctocolitis. In view of poor response to elimination diet in the mother and extensively hydrolysed formula, the baby was started on amino acid formula with complete recovery. CONCLUSION: Through this case we wish to highlight that clinicians should consider food protein-induced allergic proctocolitis in their differential diagnosis in a neonate presenting with blood in stools and anal skin tag.", "provenance": [ { "field": "n", "quote": "A 26-day-old baby presented with history of passing intermittent blood in stools for two days." }, { "field": "population", "quote": "A 26-day-old baby presented with history of passing intermittent blood in stools for two days. The baby was exclusively breast-fed and was well-appearing with no failure to thrive." }, { "field": "intervention", "quote": "the baby was started on amino acid formula with complete recovery" }, { "field": "comparator", "quote": "poor response to elimination diet in the mother and extensively hydrolysed formula" }, { "field": "primaryOutcome", "quote": "Colonoscopy was suggestive of food protein-induced allergic proctocolitis." }, { "field": "result", "quote": "the baby was started on amino acid formula with complete recovery" } ] }, { "id": "pmid:33138907", "pmid": "33138907", "doi": "10.21614/chirurgia.115.5.681", "nctId": null, "pmcid": null, "title": "Anal Metastasis from Lung Cancer: Report of a Case and Systematic Review of the Literature", "firstAuthor": "Bardac", "multipleAuthors": true, "journal": "Chirurgia (Bucur)", "year": 2020, "design": "case-series", "n": 13, "nField": "reported", "population": "people with lung cancer who develop an anal or perianal lump", "intervention": "surgical excision and pathology/immunohistochemistry evaluation of the anal mass", "comparator": "none", "primaryOutcome": "diagnosis of the anal bump as cancer spread (metastasis) from lung cancer", "result": "the anal lump was found to be a metastasis from lung cancer, something that can look like hemorrhoids and be missed", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is just one new patient case plus 12 other reported cases found in the literature, not a study that tests a treatment or compares groups.", "directness": "indirect", "limitations": "Extremely rare condition with only 13 total cases ever described, no control group, and no statistical testing of outcomes.", "followUp": "", "plainFinding": "Rarely, lung cancer spreads to the anus.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/33138907/", "sourceText": "Background: Lung cancer is the most frequent cancer, accounting for over 2 million new cases per year worldwide. In Romania, the cancers with the highest incidence are lung cancer for men and breast cancer for women. Cancer-related deaths follow the same pattern. More than 50% of the patients with lung cancers have distant metastases at the time of diagnosis. Metastases from lung cancer occur mainly in the brain, bones, liver, and adrenals. Anal metastases from primary lung cancer are extremely uncommon. As far as we know there are only 12 cases reported in the literature until now. Case report: Case report and systematic review. We performed a systematic literature search in PubMed using the following MeSH terms: \"lung cancer metastasis\" AND \"anal\" OR \"anus\" OR \"perianal\". The search was conducted from the beginning of the database onwards. No language exclusion criteria were used. We report the case of a patient with advanced lung adenocarcinoma presenting with a painful, ulcerated and bleeding anal tumor. The anal tumor was excised with primary wound closure in spinal anesthesia. The pathology report and the immunohistochemistry of the specimen revealed metastasis of the lung adenocarcinoma. The review included 12 papers reporting 12 cases. The male/female ratio was 3/1. The average age was 62,16 years. Among these 12 patients, one had a SCLC. From the remaining 11 cases with NSCLC, 4 were adenocarcinomas, 4 squamous cell carcinomas, two anaplastic carcinomas and one mucoepidermoid carcinoma. The anal metastases were synchronous in 4 cases and metachronous in the rest of 8 cases. Since 2006 immuno-histochemistry plays an important role in the diagnosis of these metastases. Conclusions: Our patient presented an anal metastasis of a lung adenocarcinoma that was masquerading as a complicated hemorrhoidal disease. Because anal masses can be easily misdiagnosed, patients with lung cancers and anal or perianal complaints should be evaluated for metastatic disease. Medical teams that are managing such cases must be aware of this rare but possible situation. Immunohistochemistry plays an important role in establishing the diagnosis for the anal or perianal tumours in patients with lung cancer.", "provenance": [ { "field": "n", "quote": "The review included 12 papers reporting 12 cases." }, { "field": "population", "quote": "patients with lung cancers and anal or perianal complaints should be evaluated for metastatic disease" }, { "field": "intervention", "quote": "The anal tumor was excised with primary wound closure in spinal anesthesia." }, { "field": "comparator", "quote": "Case report and systematic review." }, { "field": "primaryOutcome", "quote": "The pathology report and the immunohistochemistry of the specimen revealed metastasis of the lung adenocarcinoma." }, { "field": "result", "quote": "Our patient presented an anal metastasis of a lung adenocarcinoma that was masquerading as a complicated hemorrhoidal disease." } ] }, { "id": "pmid:32987435", "pmid": "32987435", "doi": "10.1055/s-0040-1716726", "nctId": null, "pmcid": null, "title": "Perianal Abscesses and Fistulas in Infants and Children", "firstAuthor": "Gosemann", "multipleAuthors": true, "journal": "Eur J Pediatr Surg", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "infants and children with a lump near the anus (perianal abscess or fistula)", "intervention": "various treatments (conservative or surgical) depending on age", "comparator": "different treatment approaches compared by age group", "primaryOutcome": "disease course and response to management", "result": "abstract describes the condition and treatment options but does not report a specific outcome measure or comparative result", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a narrative review summarizing existing knowledge rather than presenting new comparative data on outcomes", "directness": "direct", "limitations": "pathogenesis remains unclear; treatment is described as empiric rather than evidence-based; no original outcome data reported", "followUp": "", "plainFinding": "Often resolves on its own in babies.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32987435/", "sourceText": "Perianal abscess (PA) and fistula-in-ano (FIA) are common entities in infancy. Although several hypotheses have been suggested, the pathogenesis of PA/FIA remains elusive. The natural course of these diseases in infancy is self-limiting in the majority of cases whereas older children show similarities to PA/FIA in adults. It is important to rule out rare differential diagnoses of PA/FIA such as inflammatory bowel disease (IBD), surgical complications after colorectal surgery, and immunodeficiencies. Treatment remains empiric, comprises conservative, as well as surgical approaches, and is dependent on the age of the patient. This review summarizes anatomical aspects, current evidence on disease pathogenesis, clinical presentation, and management of pediatric patients with PA and FIA.", "provenance": [ { "field": "population", "quote": "Perianal abscess (PA) and fistula-in-ano (FIA) are common entities in infancy." }, { "field": "intervention", "quote": "Treatment remains empiric, comprises conservative, as well as surgical approaches, and is dependent on the age of the patient." }, { "field": "comparator", "quote": "and is dependent on the age of the patient" }, { "field": "primaryOutcome", "quote": "The natural course of these diseases in infancy is self-limiting in the majority of cases whereas older children show similarities to PA/FIA in adults." }, { "field": "result", "quote": "This review summarizes anatomical aspects, current evidence on disease pathogenesis, clinical presentation, and management of pediatric patients with PA and FIA." } ] }, { "id": "pmid:32485535", "pmid": "32485535", "doi": "10.1016/j.anndiagpath.2020.151535", "nctId": null, "pmcid": null, "title": "Histologic diagnosis of a case of anal duct carcinoma with cytological correlation and differential diagnoses", "firstAuthor": "Lu", "multipleAuthors": true, "journal": "Ann Diagn Pathol", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "a patient with a bump/growth near the anus later diagnosed as anal duct carcinoma", "intervention": "biopsy and cytology testing to diagnose the growth", "comparator": "no comparator described", "primaryOutcome": "accuracy of diagnosing anal duct carcinoma using tissue and cell samples", "result": "the cancer could be accurately identified using biopsy and cytology with careful attention to specific features", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single case report describing one patient, so it cannot show whether any treatment works or how common this cause of a bump is.", "directness": "indirect", "limitations": "only one case is described, focused on diagnostic pathology rather than treatment or outcomes, and findings from one patient cannot be generalized.", "followUp": "", "plainFinding": "Describes diagnosing a rare anal cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32485535/", "sourceText": "Anal duct carcinoma is an uncommon malignancy of the glands of the anal duct. This entity poses a diagnostic challenge, both clinically and histologically. This article describes histopathologic findings in a case of anal duct carcinoma, including the initial diagnosis on biopsy and subsequent cytology specimens. Additionally, differential diagnoses of this neoplasm are discussed. With a high index of suspicion, and attention to histological and immunohistochemical features, anal duct carcinoma can be accurately diagnosed both on biopsy and on cytology.", "provenance": [ { "field": "population", "quote": "a case of anal duct carcinoma" }, { "field": "intervention", "quote": "the initial diagnosis on biopsy and subsequent cytology specimens" }, { "field": "comparator", "quote": "Additionally, differential diagnoses of this neoplasm are discussed." }, { "field": "primaryOutcome", "quote": "anal duct carcinoma can be accurately diagnosed both on biopsy and on cytology" }, { "field": "result", "quote": "With a high index of suspicion, and attention to histological and immunohistochemical features, anal duct carcinoma can be accurately diagnosed both on biopsy and on cytology." }, { "field": "n", "quote": "a case of anal duct carcinoma" } ] }, { "id": "pmid:32434434", "pmid": "32434434", "doi": "10.1177/1066896920925919", "nctId": null, "pmcid": null, "title": "Anal Fibroepithelial Polyp With Epithelial Vascular Pseudoinvasion", "firstAuthor": "Fellegara", "multipleAuthors": true, "journal": "Int J Surg Pathol", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "a 38-year-old man with recurrent anal discomfort", "intervention": "surgical removal and microscopic examination of anal polyps", "comparator": "none", "primaryOutcome": "type and cause of the anal polyp bump", "result": "found to be a benign fibroepithelial polyp with a harmless pattern that can look like cancer spread under the microscope", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how it compares to other treatments.", "directness": "direct", "limitations": "Only one patient was studied, and the abstract does not report any follow-up outcome.", "followUp": "", "plainFinding": "Benign anal polyp, not cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32434434/", "sourceText": "In this article, we report a case of anal fibroepithelial polyp with benign squamous cell vascular pseudoinvasion. The patient was a 38-year-old Caucasian man, who presented at our institution for recurrent episodes of anal discomfort. Clinical evaluation revealed the presence of 2 pedunculated anal polyps that were resected and submitted for histological evaluation. On microscopic evaluation, one of the polyps shows epithelial endovascular displacement associated with morphological signs of traumatism. The differential diagnosis and possible pathogenetic mechanisms explaining the presence of such findings are discussed. To the best of our knowledge, this is the first case reported of an anal fibroepithelial polyp with epithelial vascular pseudoinvasion.", "provenance": [ { "field": "population", "quote": "The patient was a 38-year-old Caucasian man, who presented at our institution for recurrent episodes of anal discomfort." }, { "field": "n", "quote": "The patient was a 38-year-old Caucasian man" }, { "field": "intervention", "quote": "Clinical evaluation revealed the presence of 2 pedunculated anal polyps that were resected and submitted for histological evaluation." }, { "field": "comparator", "quote": "we report a case of anal fibroepithelial polyp with benign squamous cell vascular pseudoinvasion" }, { "field": "primaryOutcome", "quote": "On microscopic evaluation, one of the polyps shows epithelial endovascular displacement associated with morphological signs of traumatism." }, { "field": "result", "quote": "we report a case of anal fibroepithelial polyp with benign squamous cell vascular pseudoinvasion" } ] }, { "id": "pmid:32402305", "pmid": "32402305", "doi": "10.1016/j.suc.2020.02.007", "nctId": null, "pmcid": null, "title": "Anal Cancer", "firstAuthor": "Young", "multipleAuthors": true, "journal": "Surg Clin North Am", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with suspected anal canal cancer or anorectal lesions", "intervention": "not applicable (review of diagnosis and management)", "comparator": "", "primaryOutcome": "understanding diagnosis, staging, and treatment of anal canal tumors", "result": "Not a clinical trial; article discusses evaluation and management, emphasizing timely diagnosis, accurate staging, and surveillance", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a narrative review article with no original patient data, trial results, or comparisons, so it cannot show whether any treatment works.", "directness": "indirect", "limitations": "No study data, sample size, or outcomes reported; purely descriptive/educational review.", "followUp": "", "plainFinding": "Explains anal cancer diagnosis, not treatment results.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32402305/", "sourceText": "Anal cancer is a rare cancer, comprising less than 5% of gastrointestinal tract malignancies. Diagnosis of anal canal cancer can be difficult given that presenting symptoms are similar to those of benign anorectal diseases. General surgeons who encounter suspected anal canal cancer need to have a good understanding of the anatomy of the anal canal, high index of suspicion for malignancy, and low threshold to biopsy lesions when indicated. This article discusses the most commonly encountered anal canal tumors, the evaluation of these tumors, and their management. The foundation for successful therapy includes timely diagnosis, accurate staging, and routine surveillance.", "provenance": [ { "field": "population", "quote": "General surgeons who encounter suspected anal canal cancer" }, { "field": "primaryOutcome", "quote": "This article discusses the most commonly encountered anal canal tumors, the evaluation of these tumors, and their management." }, { "field": "result", "quote": "The foundation for successful therapy includes timely diagnosis, accurate staging, and routine surveillance." }, { "field": "intervention", "quote": "This article discusses the most commonly encountered anal canal tumors, the evaluation of these tumors, and their management." } ] }, { "id": "pmid:32362631", "pmid": "32362631", "doi": "10.4103/jcrt.JCRT_317_17", "nctId": null, "pmcid": null, "title": "Human papillomavirus-negative epithelial proliferations resembling condylomata acuminata in a patient receiving vemurafenib for Stage IV melanoma", "firstAuthor": "Peters", "multipleAuthors": true, "journal": "J Cancer Res Ther", "year": 2020, "design": "case-series", "n": null, "nField": "not-reported", "population": "patient with stage IV melanoma on vemurafenib treatment", "intervention": "vemurafenib (BRAF inhibitor) treatment for melanoma", "comparator": "", "primaryOutcome": "development of anal bumps resembling genital warts", "result": "patient developed anal wart-like growths that tested negative for HPV and common cancer mutations", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this is or confirm the cause.", "directness": "indirect", "limitations": "single case, no control comparison, cause of the proliferations not fully determined", "followUp": "", "plainFinding": "Anal bumps from cancer drug, not warts.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32362631/", "sourceText": "With the discovery of v-Raf murine sarcoma viral oncogene homolog B (BRAF) inhibitors, new treatment possibilities arose against metastatic melanoma. A frequent adverse effect of BRAF inhibitor therapy is the induction of epithelial proliferations such as cutaneous squamous cell carcinoma and verrucous papilloma. Here, we describe a case in which a patient developed extensive anal epithelial proliferations resembling condylomata acuminata, after starting vemurafenib treatment. This adverse effect has rarely been reported in the literature. Interestingly, the lesions in our patient were negative for human papillomavirus, and mutations in BRAF, Neuroblastoma rat sarcoma viral oncogene homolog (NRAS), Kirsten rat sarcoma viral oncogene homolog (KRAS), and Harvey rat sarcoma viral oncogene homolog (HRAS) were not detected. Different pathways can contribute to these epithelial proliferations resembling condylomata acuminata. We show the relevance of a detailed history at the beginning and during treatment, instructions, education, and dermatological follow-up (including the genital area) for patients treated with BRAF inhibitors. Condylomata acuminata can influence the quality of life and are treated, in an early stage, with cryotherapy, coagulation, imiquimod, and/or CO2 laser therapy.", "provenance": [ { "field": "population", "quote": "Here, we describe a case in which a patient developed extensive anal epithelial proliferations resembling condylomata acuminata, after starting vemurafenib treatment." }, { "field": "intervention", "quote": "after starting vemurafenib treatment" }, { "field": "primaryOutcome", "quote": "extensive anal epithelial proliferations resembling condylomata acuminata" }, { "field": "result", "quote": "Interestingly, the lesions in our patient were negative for human papillomavirus, and mutations in BRAF, Neuroblastoma rat sarcoma viral oncogene homolog (NRAS), Kirsten rat sarcoma viral oncogene homolog (KRAS), and Harvey rat sarcoma viral oncogene homolog (HRAS) were not detected." } ] }, { "id": "pmid:32308242", "pmid": "32308242", "doi": null, "nctId": null, "pmcid": "PMC7144705", "title": "Colorectal Surgery Review for Primary Care Providers", "firstAuthor": "Hegde", "multipleAuthors": true, "journal": "Mo Med", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people seen by primary care doctors with anal or rectal symptoms", "intervention": "not applicable - this is a review of diagnosis", "comparator": "not applicable", "primaryOutcome": "telling apart different anorectal conditions by exam and history", "result": "careful history and exam can distinguish conditions like hemorrhoids, abscesses, fistula, fissure, and genital warts, usually without need for imaging", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a general review describing how to diagnose conditions rather than a study testing a treatment or outcome.", "directness": "direct", "limitations": "no study data, patient numbers, or outcome results are given; it is a general educational overview for doctors.", "followUp": "", "plainFinding": "Bump likely a common anorectal condition.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32308242/", "sourceText": "Anorectal conditions are one of the most common problems evaluated by primary care physicians. Most patients present with rectal pain, rectal bleeding, or purulent drainage per rectum. Colorectal conditions have overlapping symptoms. Thorough history and careful anorectal examination can differentiate common anorectal conditions like hemorrhoids, anorectal abscesses, anal fistula, anal fissure, and anal condyloma. Most of these conditions can be diagnosed and treated without imaging.", "provenance": [ { "field": "population", "quote": "Anorectal conditions are one of the most common problems evaluated by primary care physicians." }, { "field": "intervention", "quote": "Thorough history and careful anorectal examination can differentiate common anorectal conditions" }, { "field": "comparator", "quote": "Most of these conditions can be diagnosed and treated without imaging." }, { "field": "primaryOutcome", "quote": "Thorough history and careful anorectal examination can differentiate common anorectal conditions like hemorrhoids, anorectal abscesses, anal fistula, anal fissure, and anal condyloma." }, { "field": "result", "quote": "Most of these conditions can be diagnosed and treated without imaging." } ] }, { "id": "pmid:32264858", "pmid": "32264858", "doi": "10.1186/s12893-020-00727-6", "nctId": null, "pmcid": "PMC7140585", "title": "A rare case of recurrent primary anorectal melanoma emphasizing the importance of postoperative follow-ups", "firstAuthor": "Li", "multipleAuthors": true, "journal": "BMC Surg", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "85-year-old woman with a recurrence of a rare anal/rectal cancer called melanoma", "intervention": "surgical removal of the tumor again (wide local excision)", "comparator": "a more extensive surgery (abdominoperineal resection)", "primaryOutcome": "whether the tumor was removed and bowel control was regained", "result": "the recurrent tumor was removed and she regained normal bowel control, with no spread seen on scans", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient's case report, so it cannot show how common this cause is or how most people would do.", "directness": "indirect", "limitations": "single case report; no comparison group; findings may not generalize to typical anal/rectal bumps which are usually not melanoma.", "followUp": "5 years", "plainFinding": "Rare melanoma cause, successfully re-removed.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32264858/", "sourceText": "BACKGROUND: Primary anorectal melanoma can be a rare differential diagnosis of anorectal mass. Due to the low case number reported in the literature, physicians are not aware of this aggressive disease. Although no consensus exists, wide local excision and abdominoperineal resection are considered the mainstay therapy. CASE PRESENTATION: An 85-year-old female patient presented with fecal incontinence 5 years after local resection of a primary anorectal melanoma. In the rectoscopy, a tumor proximal to the dentate line was identified and later confirmed as a recurrent primary anorectal melanoma. There were no signs of locoregional or distant metastasis on the MRI and PET/CT. She underwent another wide local excision and regained fecal continence postoperatively. CONCLUSIONS: Primary anorectal melanoma should belong to the differential diagnosis of anorectal mass. If technically feasible, wide local excision represents a less invasive treatment than abdominoperineal resection, retaining the anal sphincter and patient's quality of life. Even though wide local excision has a higher recurrence rate than abdominoperineal resection, there is no difference in survival between the two procedures. This is only under the premise that patients are followed-up regularly after wide local excision so that recurrence can be spotted early on and locally excised.", "provenance": [ { "field": "population", "quote": "An 85-year-old female patient presented with fecal incontinence 5 years after local resection of a primary anorectal melanoma." }, { "field": "intervention", "quote": "She underwent another wide local excision and regained fecal continence postoperatively." }, { "field": "comparator", "quote": "wide local excision and abdominoperineal resection are considered the mainstay therapy" }, { "field": "primaryOutcome", "quote": "She underwent another wide local excision and regained fecal continence postoperatively." }, { "field": "result", "quote": "There were no signs of locoregional or distant metastasis on the MRI and PET/CT. She underwent another wide local excision and regained fecal continence postoperatively." }, { "field": "n", "quote": "An 85-year-old female patient" }, { "field": "followUp", "quote": "5 years after local resection of a primary anorectal melanoma" } ] }, { "id": "pmid:32164517", "pmid": "32164517", "doi": "10.2174/1574887115666200312163940", "nctId": null, "pmcid": null, "title": "Classifications and Clinical Assessment of Haemorrhoids: The Proctologist's Corner", "firstAuthor": "Picciariello", "multipleAuthors": true, "journal": "Rev Recent Clin Trials", "year": 2021, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "adults with haemorrhoids", "intervention": "not applicable - this is a review of classification and assessment methods", "comparator": "", "primaryOutcome": "how classification systems and clinical assessment guide treatment choice", "result": "classification systems and differential diagnosis are important for choosing the right treatment based on severity", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a narrative review of assessment methods, not a study testing whether a treatment works", "directness": "indirect", "limitations": "no original data, no patient outcomes measured, purely a review of classification literature", "followUp": "", "plainFinding": "Bump likely a haemorrhoid, needs assessment", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32164517/", "sourceText": "BACKGROUND: Haemorrhoidal disease (HD) is a benign condition affecting a considerable part of adult population. HD can be considered a social and economic burden with high impact on patients' lifestyle. Several new techniques and devices have been proposed for HD treatment; however, preoperative assessment is essential and the use of classification system is recommended. METHODS: In the last two decades many studies described the preoperative assessment and several attempts of classification for HD. This review focuses on the most relevant studies found in literature where classification systems and clinical evaluation with differential diagnosis have been evaluated. RESULTS: The knowledge of classification systems and differential diagnosis for HD has been shown to play a central role in the clinical assessment and the best treatment choice. Although there are new challenging techniques and devices for HD treatment, a preoperative assessment is always mandatory. CONCLUSION: Preoperative clinical evaluation is essential for HD patient treatment and outcome. Classification systems are useful for the therapeutic choice and researches on new medical or surgical treatments. In fact, the international guidelines advise several therapeutic options depending on the severity of the HD.", "provenance": [ { "field": "population", "quote": "Haemorrhoidal disease (HD) is a benign condition affecting a considerable part of adult population" }, { "field": "primaryOutcome", "quote": "The knowledge of classification systems and differential diagnosis for HD has been shown to play a central role in the clinical assessment and the best treatment choice" }, { "field": "result", "quote": "Classification systems are useful for the therapeutic choice and researches on new medical or surgical treatments." }, { "field": "intervention", "quote": "preoperative assessment is essential and the use of classification system is recommended" } ] }, { "id": "pmid:32077979", "pmid": "32077979", "doi": "10.1007/s00105-020-04553-y", "nctId": null, "pmcid": null, "title": "[Differential diagnosis of hemorrhoidal disease]", "firstAuthor": "Herold", "multipleAuthors": false, "journal": "Hautarzt", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "adults with symptoms or lumps around the anus", "intervention": "", "comparator": "", "primaryOutcome": "distinguishing hemorrhoids from other causes of similar symptoms or bumps", "result": "lists several possible causes of similar symptoms and lumps, without testing or comparing treatments", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a narrative review describing possible diagnoses, not a study measuring outcomes or testing treatments", "directness": "direct", "limitations": "no original data, no numbers of patients, purely descriptive review of differential diagnoses", "followUp": "", "plainFinding": "Many possible causes besides hemorrhoids.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32077979/", "sourceText": "Hemorrhoidal disease is one of the most common illnesses in industrialized nations. Up to 70% of adults suffer from the disease once in their lifetime. This underlines the necessity and importance of knowing about the differential diagnosis of hemorrhoids. One can differentiate between differential diagnoses of symptoms (bleeding, pain, itching, tumor) and differential diagnoses of the phenotype findings (anal prolapse, mucosal prolapse and rectal prolapse, skin tags, hypertrophied anal papillae, condylomata acuminata, anal fissure, perianal venous thrombosis, anal cancer).", "provenance": [ { "field": "population", "quote": "Hemorrhoidal disease is one of the most common illnesses in industrialized nations. Up to 70% of adults suffer from the disease once in their lifetime." }, { "field": "primaryOutcome", "quote": "the necessity and importance of knowing about the differential diagnosis of hemorrhoids" }, { "field": "result", "quote": "One can differentiate between differential diagnoses of symptoms (bleeding, pain, itching, tumor) and differential diagnoses of the phenotype findings (anal prolapse, mucosal prolapse and rectal prolapse, skin tags, hypertrophied anal papillae, condylomata acuminata, anal fissure, perianal venous thrombosis, anal cancer)." } ] }, { "id": "pmid:32026703", "pmid": "32026703", "doi": "10.5144/0256-4947.2020.42", "nctId": null, "pmcid": "PMC7012033", "title": "Magnetic resonance imaging findings in patients with initial manifestations of perianal fistulas", "firstAuthor": "Waheed", "multipleAuthors": true, "journal": "Ann Saudi Med", "year": 2020, "design": "retrospective", "n": 171, "nField": "reported", "population": "people with newly found, untreated perianal fistulas (tunnels near the anus)", "intervention": "MRI scan of the fistula to classify it as simple/complex or low/high", "comparator": "simple versus complex/high fistula types on imaging", "primaryOutcome": "whether the fistula type on MRI predicted a diagnosis of Crohn's disease", "result": "Complex or high fistulas on MRI were much more likely to be linked to Crohn's disease than simple fistulas", "resultDirection": "mixed", "quality": "low", "qualityWhy": "This was a small, retrospective, single-center study looking backward at records, which limits how much it can prove.", "directness": "direct", "limitations": "Retrospective, small sample, single center, and short duration study.", "followUp": "", "plainFinding": "Complex fistula may signal Crohn's disease.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/32026703/", "sourceText": "BACKGROUND: Crohn's disease (CD) is a serious cause of perianal disease and the incidence is increasing in Saudi Arabia. MR imaging may document specific features that may help to foresee Crohn's disease in patients making an initial presentation. OBJECTIVE: Present MR imaging findings of perianal fistulas in patients making an initial presentation. DESIGN: Retrospective, observational. SETTING: Radiology clinic in in Dhahran. PATIENTS AND METHODS: All previously undiagnosed and untreated patients who presented for the first time to the outpatient clinics from September 2015-2018 with perianal fistulas were retrospectively evaluated. Previously diagnosed CD patients, post-surgical or intervention cases were excluded. Fistulas were categorized as low or high anal, simple or complex, and were graded per St. James University Hospital Classification. Imaging was interpreted by two experienced readers based on the Van Assche score. MAIN OUTCOME MEASURES: Fistula features on MR imaging and diagnosis of CD. SAMPLE SIZE: 171 patients. RESULTS: Of 171 patients, 139 (81.3%) were males with mean age of 37.2 (12.7) years; the 32 females had a mean age of 35.8 (10.6) years. Twenty-one patients (12.3%) had CD. Fourteen (40.4%) patients with complex fistulas had CD in comparison to only 5 (4.8%) simple fistula patients ( P=.0005). More than half of patients with complex and high anal fistulas had CD ( P=.0005). Females were more affected than males ( P=.0005). CONCLUSION: Complex or high anal fistula on MR imaging may be the initial presentation of CD and warrant further work up to establish the diagnosis. LIMITATIONS: Retrospective, small sample, single center, and short duration study. CONFLICT OF INTEREST: None.", "provenance": [ { "field": "n", "quote": "SAMPLE SIZE: 171 patients." }, { "field": "population", "quote": "All previously undiagnosed and untreated patients who presented for the first time to the outpatient clinics from September 2015-2018 with perianal fistulas were retrospectively evaluated." }, { "field": "intervention", "quote": "Fistulas were categorized as low or high anal, simple or complex, and were graded per St. James University Hospital Classification." }, { "field": "comparator", "quote": "Fourteen (40.4%) patients with complex fistulas had CD in comparison to only 5 (4.8%) simple fistula patients ( P=.0005)." }, { "field": "primaryOutcome", "quote": "Fistula features on MR imaging and diagnosis of CD." }, { "field": "result", "quote": "More than half of patients with complex and high anal fistulas had CD ( P=.0005)." }, { "field": "limitations", "quote": "Retrospective, small sample, single center, and short duration study." } ] }, { "id": "pmid:31894930", "pmid": "31894930", "doi": null, "nctId": null, "pmcid": null, "title": "Benign Anorectal Conditions: Evaluation and Management", "firstAuthor": "Cohee", "multipleAuthors": true, "journal": "Am Fam Physician", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with common bottom or anal problems (lumps, itching, pain)", "intervention": "various treatments depending on diagnosis (fiber, creams, drainage, surgery, biofeedback)", "comparator": "", "primaryOutcome": "correct diagnosis and symptom improvement with appropriate treatment", "result": "this is a general review describing how to diagnose and manage common anorectal conditions, not a single trial result", "resultDirection": "unclear", "quality": "low", "qualityWhy": "it is a general review of expert recommendations, not a study testing one treatment against another.", "directness": "direct", "limitations": "no original study data, numbers, or control groups; just summarises general management advice for multiple separate conditions.", "followUp": "", "plainFinding": "Lumps near anus usually benign.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31894930/", "sourceText": "Common anorectal conditions include hemorrhoids, perianal pruritus, anal fissures, functional rectal pain, perianal abscess, condyloma, rectal prolapse, and fecal incontinence. Although these are benign conditions, symptoms can be similar to those of cancer, so malignancy should be considered in the differential diagnosis. History and examination, including anoscopy, are usually sufficient for diagnosing these conditions, although additional testing is needed in some situations. The primary treatment for hemorrhoids is fiber supplementation. Patients who do not improve and those with large high-grade hemorrhoids should be referred for surgery. Acutely thrombosed external hemorrhoids should be excised. Perianal pruritus should be treated with hygienic measures, barrier emollients, and low-dose topical corticosteroids. Capsaicin cream and tacrolimus ointment are effective for recalcitrant cases. Treatment of acute anal fissures with pain and bleeding involves adequate fluid and fiber intake. Chronic anal fissures should be treated with topical nitrates or calcium channel blockers, with surgery for patients who do not respond to medical management. Patients with functional rectal pain should be treated with warm baths, fiber supplementation, and biofeedback. Patients with superficial perianal abscesses not involving the sphincter should undergo office-based drainage; patients with more extensive abscesses or possible fistulas should be referred for surgery. Condylomata can be managed with topical medicines, excision, or destruction. Patients with rectal prolapse should be referred for surgical evaluation. Biofeedback is a first-line treatment for fecal incontinence, but antidiarrheal agents are useful if diarrhea is involved, and fiber and laxatives may be used if impaction is present. Colostomy can help improve quality of life for patients with severe fecal incontinence.", "provenance": [ { "field": "population", "quote": "Common anorectal conditions include hemorrhoids, perianal pruritus, anal fissures, functional rectal pain, perianal abscess, condyloma, rectal prolapse, and fecal incontinence." }, { "field": "result", "quote": "Although these are benign conditions, symptoms can be similar to those of cancer, so malignancy should be considered in the differential diagnosis." }, { "field": "intervention", "quote": "The primary treatment for hemorrhoids is fiber supplementation." }, { "field": "primaryOutcome", "quote": "History and examination, including anoscopy, are usually sufficient for diagnosing these conditions" } ] }, { "id": "pmid:31867728", "pmid": "31867728", "doi": "10.1111/pde.14077", "nctId": null, "pmcid": null, "title": "Genital nevus lipomatosus cutaneous superficialis: A diagnostic challenge in a pediatric patient", "firstAuthor": "Liu", "multipleAuthors": true, "journal": "Pediatr Dermatol", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "a 14-year-old boy with a genital skin bump", "intervention": "no treatment described; diagnostic evaluation of the skin lesion", "comparator": "initial misdiagnosis as genital warts (condyloma acuminata)", "primaryOutcome": "correct diagnosis of the anogenital skin lesion", "result": "the bump was found to be a benign fatty skin growth (nevus lipomatosus cutaneous superficialis), not a sexually transmitted wart", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this cause is or how it compares to other causes.", "directness": "direct", "limitations": "only one patient described; no comparison group or broader data on how often this explains anal or buttock bumps.", "followUp": "", "plainFinding": "Benign fatty bump, not a wart.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31867728/", "sourceText": "Nevus lipomatosus cutaneous superficialis (NLCS) is an idiopathic hamartomatous condition characterized by the presence of mature adipose tissue in the dermis. We report a case of NLCS initially misdiagnosed as condyloma acuminata in a 14-year-old boy. This case highlights classic clinical and histologic features of NLCS. The case presented here underscores the need for a high degree of clinical suspicion in diagnosing NLCS and in differentiating benign anogenital lesions from sexually transmitted conditions to avoid unnecessary work-up and undue emotional stress.", "provenance": [ { "field": "n", "quote": "We report a case of NLCS" }, { "field": "population", "quote": "a 14-year-old boy" }, { "field": "intervention", "quote": "We report a case of NLCS initially misdiagnosed as condyloma acuminata in a 14-year-old boy." }, { "field": "comparator", "quote": "initially misdiagnosed as condyloma acuminata" }, { "field": "primaryOutcome", "quote": "differentiating benign anogenital lesions from sexually transmitted conditions" }, { "field": "result", "quote": "Nevus lipomatosus cutaneous superficialis (NLCS) is an idiopathic hamartomatous condition characterized by the presence of mature adipose tissue in the dermis." } ] }, { "id": "pmid:31761896", "pmid": "31761896", "doi": "10.12659/AJCR.918220", "nctId": null, "pmcid": "PMC6892389", "title": "Perianal Histoplasmosis Presenting as a Mass Suspicious for Malignancy: A Case Report with Review of Gastrointestinal Manifestations of Histoplasmosis", "firstAuthor": "Wheelwright", "multipleAuthors": true, "journal": "Am J Case Rep", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "66-year-old man with a painful lump near the anus", "intervention": "antifungal medication (itraconazole and terbinafine)", "comparator": "none", "primaryOutcome": "improvement in symptoms and signs of infection after treatment", "result": "Biopsy showed the mass was a fungal infection (histoplasmosis), not cancer, and symptoms improved significantly after antifungal treatment", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how reliably treatment works for others.", "directness": "direct", "limitations": "Single case report with no comparison group; findings may not generalize to other patients with a perianal lump.", "followUp": "5-months", "plainFinding": "Anal lump was a rare fungal infection, not cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31761896/", "sourceText": "BACKGROUND Disseminated histoplasmosis, a disease that can present years after exposure to the causative organism, may manifest in many diverse ways. Although the gastrointestinal tract is involved in most cases, the initial presentation occurring along the gastrointestinal tract, including the colon and rectum, is infrequent. CASE REPORT This case report describes a 66-year-old male patient who presented with an indurated painful perianal lesion that appeared highly suspicious for malignancy on imaging. The patient had no known history of well-established immunocompromised state except for a short course of prednisolone for chronic obstructive pulmonary disease management. A biopsy of the mass was performed, showing chronic inflammation with clusters of epithelioid histiocytes containing characteristic, PAS-fungus stain-positive, intracellular yeast forms consistent with histoplasmosis. There was no evidence of malignancy. A subsequent work-up revealed perihilar nodularity on chest X-ray suggestive of calcified granuloma, a positive Histoplasma Capsulatum Antigen test result, and mildly decreased CD4: CD8 ratio of unknown significance. HIV testing was negative. Treatment with itraconazole and terbinafine was initiated, and at 5-months follow-up, the patient reported significant improvement in signs and symptoms, with undetectable Histoplasma antigen on repeat testing. CONCLUSIONS This case represents an extremely rare presentation of histoplasmosis infection, and highlights the fact that presenting symptoms of histoplasmosis can be vague and may mimic other disease processes, including neoplasia. Biopsy of the lesion with PAS staining and serologic testing is critical in establishing the correct diagnosis.", "provenance": [ { "field": "population", "quote": "a 66-year-old male patient who presented with an indurated painful perianal lesion that appeared highly suspicious for malignancy on imaging" }, { "field": "intervention", "quote": "Treatment with itraconazole and terbinafine was initiated" }, { "field": "comparator", "quote": "Treatment with itraconazole and terbinafine was initiated" }, { "field": "primaryOutcome", "quote": "at 5-months follow-up, the patient reported significant improvement in signs and symptoms, with undetectable Histoplasma antigen on repeat testing" }, { "field": "result", "quote": "showing chronic inflammation with clusters of epithelioid histiocytes containing characteristic, PAS-fungus stain-positive, intracellular yeast forms consistent with histoplasmosis. There was no evidence of malignancy." }, { "field": "n", "quote": "a 66-year-old male patient" }, { "field": "followUp", "quote": "at 5-months follow-up" } ] }, { "id": "pmid:31753232", "pmid": "31753232", "doi": "10.1016/j.mric.2019.09.005", "nctId": null, "pmcid": null, "title": "Staging of Anal Cancer: Role of MR Imaging", "firstAuthor": "Maas", "multipleAuthors": true, "journal": "Magn Reson Imaging Clin N Am", "year": 2020, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal cancer", "intervention": "MRI imaging for staging and tumor/nodal response assessment", "comparator": "PET-CT or CT scans for whole-body staging", "primaryOutcome": "accuracy of local tumor (T) and nodal (N) staging and treatment response assessment", "result": "MRI is used for local T and N staging, and together with clinical evaluation assesses tumor and nodal response after chemoradiation, with maximal response seen at 6 months", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a narrative review describing imaging methods rather than a study testing a treatment, so it doesn't provide comparative outcome data.", "directness": "indirect", "limitations": "No patient numbers, outcome data, or study methodology are reported; this is a descriptive review article.", "followUp": "6 months", "plainFinding": "Describes imaging for anal cancer, not bump causes.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31753232/", "sourceText": "Anal cancer is a relatively rare malignancy. Treatment consists of chemoradiation and most patients achieve a complete response. Local evaluation of the T and N stage is performed by MR imaging. Whole-body staging with 18F-fluorodesoxyglucose positron emission tomography computed tomography scans or computed tomography scans is used to detect metastases. T stage is based on tumor size or invasion of organs. N stage is based on nodal location. After chemoradiation, clinical evaluation and MR imaging is used to assess tumor and nodal response. Maximal response is achieved 6 months after chemoradiation. Beware of development of anal cancer in perianal fistulas.", "provenance": [ { "field": "population", "quote": "Anal cancer is a relatively rare malignancy." }, { "field": "intervention", "quote": "Local evaluation of the T and N stage is performed by MR imaging." }, { "field": "comparator", "quote": "Whole-body staging with 18F-fluorodesoxyglucose positron emission tomography computed tomography scans or computed tomography scans is used to detect metastases." }, { "field": "primaryOutcome", "quote": "After chemoradiation, clinical evaluation and MR imaging is used to assess tumor and nodal response." }, { "field": "result", "quote": "Maximal response is achieved 6 months after chemoradiation." }, { "field": "followUp", "quote": "Maximal response is achieved 6 months after chemoradiation." } ] }, { "id": "pmid:31565179", "pmid": "31565179", "doi": "10.3941/jrcr.v13i4.3458", "nctId": null, "pmcid": "PMC6743640", "title": "Peritoneal Carcinomatosis Arising from Primary Anorectal Melanoma", "firstAuthor": "McBride", "multipleAuthors": true, "journal": "J Radiol Case Rep", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "75 year old woman previously treated for anal/rectal melanoma", "intervention": "none (observational case report)", "comparator": "", "primaryOutcome": "spread of cancer to the abdominal lining", "result": "Cancer had spread widely to the peritoneum (abdominal lining)", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this is or what causes a bump.", "directness": "indirect", "limitations": "Single case report; no control group; cannot generalize to typical anal/butt bumps.", "followUp": "", "plainFinding": "Rare melanoma spread widely, case report.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31565179/", "sourceText": "Anorectal melanoma is a rare and aggressive malignancy with a poor prognosis. Anorectal melanoma makes up approximately 1 to 3% of all anorectal malignancies. There are no known risk factors for anorectal melanoma. Patients frequently experience a delay in diagnosis due to multiple factors including nonspecific symptoms and misdiagnosis for other benign entities. Anorectal melanoma has a high potential for distant metastases and radiographic imaging plays a key role in evaluating for metastatic disease. Common sites for metastasis include pelvic lymph nodes, lungs, liver, skin, and brain. We present a case report of a 75 year old female with a history of transanal excision of primary anorectal melanoma who presented with increasing abdominal pain and distention. Computed tomography scan of the abdomen and pelvis showed metastatic disease to the peritoneum with findings of extensive peritoneal carcinomatosis, demonstrating the aggressive nature of anorectal melanoma.", "provenance": [ { "field": "population", "quote": "a 75 year old female with a history of transanal excision of primary anorectal melanoma" }, { "field": "intervention", "quote": "who presented with increasing abdominal pain and distention" }, { "field": "primaryOutcome", "quote": "Computed tomography scan of the abdomen and pelvis showed metastatic disease to the peritoneum" }, { "field": "result", "quote": "findings of extensive peritoneal carcinomatosis, demonstrating the aggressive nature of anorectal melanoma" }, { "field": "n", "quote": "a 75 year old female" } ] }, { "id": "pmid:31400822", "pmid": "31400822", "doi": "10.1016/j.revmed.2019.07.009", "nctId": null, "pmcid": null, "title": "[Anorectal manifestations in systemic diseases]", "firstAuthor": "Egal", "multipleAuthors": true, "journal": "Rev Med Interne", "year": 2019, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with systemic diseases such as vasculitis, connective tissue disease or sarcoidosis", "intervention": "recognizing and managing anorectal involvement from these systemic diseases", "comparator": "", "primaryOutcome": "anorectal manifestations (perianal skin, rectum, anus) of systemic diseases", "result": "the review describes that these diseases can cause perianal, rectal and anal lesions, sometimes with perforation or fistula, and emphasizes ruling out infection or Crohn's disease and routine proctology follow-up", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a narrative review describing possible manifestations without any patient data, numbers, or comparison, so it cannot show whether a treatment works.", "directness": "indirect", "limitations": "No original data, numbers of patients, or outcome measures are reported; it only describes known disease associations.", "followUp": "", "plainFinding": "Bump may signal underlying systemic disease.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31400822/", "sourceText": "Numerous systemic diseases (vasculitis, connective tissue disease or sarcoidosis) can display an involvement of the perianal skin, the rectum and/or the anus. Such knowledge is important in order to treat these complications specifically when possible. Lesions of the anorectum arising from systemic diseases can sometimes cause perforations in the peritoneal cavity (if concerning the higher portion of the rectum) and/or fistulization to the anal margin. Differential diagnosis, mostly infectious or inflammatory (Crohn's disease) must be ruled out in every case. Other systemic diseases can display specific manifestations as this is the case in scleroderma which can lead to anal incontinence. Despite the relative rarity of these manifestations, their ignorance would forbid global management of these complex diseases. It should thus be detected in each consultation and a regular follow-up must be provided with a proctologist and/or a gastroenterologist when needed.", "provenance": [ { "field": "population", "quote": "Numerous systemic diseases (vasculitis, connective tissue disease or sarcoidosis) can display an involvement of the perianal skin, the rectum and/or the anus." }, { "field": "intervention", "quote": "Such knowledge is important in order to treat these complications specifically when possible." }, { "field": "primaryOutcome", "quote": "Lesions of the anorectum arising from systemic diseases can sometimes cause perforations in the peritoneal cavity (if concerning the higher portion of the rectum) and/or fistulization to the anal margin." }, { "field": "result", "quote": "Differential diagnosis, mostly infectious or inflammatory (Crohn's disease) must be ruled out in every case." }, { "field": "result", "quote": "Other systemic diseases can display specific manifestations as this is the case in scleroderma which can lead to anal incontinence." }, { "field": "result", "quote": "It should thus be detected in each consultation and a regular follow-up must be provided with a proctologist and/or a gastroenterologist when needed." } ] }, { "id": "pmid:31368913", "pmid": "31368913", "doi": "10.1097/PAS.0000000000001339", "nctId": null, "pmcid": null, "title": "Condyloma Acuminatum of Urinary Bladder: Relation to Squamous Cell Carcinoma", "firstAuthor": "Samarska", "multipleAuthors": true, "journal": "Am J Surg Pathol", "year": 2019, "design": "case-series", "n": 38, "nField": "reported", "population": "patients with condyloma acuminatum (wart-like growths) found in the urinary bladder", "intervention": "none (observational study of bladder condyloma lesions, not a treatment)", "comparator": "", "primaryOutcome": "association between bladder condyloma and squamous cell carcinoma of the bladder", "result": "condyloma of the bladder was strongly linked to squamous cell carcinoma of the bladder, found in 44.7% of patients", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "this is a small retrospective review of specialist consult cases with no comparison group, so it can only suggest an association, not prove risk.", "directness": "indirect", "limitations": "Retrospective, selected from consult files (likely unusual/referred cases), no control group, and condyloma location studied is inside the bladder, not the skin around the anus.", "followUp": "6 y", "plainFinding": "Bladder (not anal) wart linked to bladder cancer", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31368913/", "sourceText": "Condyloma acuminatum rarely occurs in the urinary bladder and is considered to be a risk factor for squamous cell carcinoma, although there are only a few publications with limited cases. We studied 51 cases of condyloma acuminatum of the urinary bladder from transurethral resections of the urinary bladder of 38 patients from the consult files of one of the authors. Transurethral resections of the urinary bladder were obtained from 25 males with a median age of 73 years (range: 41 to 87 y) and 13 females with a median age of 68 years (range: 30 to 86 y). The follow-up period ranged from 15 months to 20 years (median: 6 y). Bladder lesions were accompanied by urethral lesions in 4 men. Eight patients (8/38; 21.0%) had a history of immunosuppression. Seven patients (7/8; 87.5%) from this group had multiple and/or recurrent condylomas. One patient (1/38; 2.6%) with renal transplantation had 10 separate bladder condylomas over time. One patient (1/38; 2.6%) had extensive anogenital condylomas and anal intraepithelial neoplasia grade 3. One patient (1/8; 12.5%) with renal transplantation presented with a solitary condyloma with synchronous squamous cell carcinoma in situ. Three female patients (3/38; 7.9%) had a history of premalignant vagina/cervix lesions. In total, 17 patients (17/38; 44.7%) had squamous cell carcinoma of the bladder, either invasive or in situ. In all cases, the squamous cell carcinoma (either in situ or invasive) was diagnosed either concurrent with the diagnosis of bladder condyloma or within 1 year of the condyloma diagnosis). In total, 9 of 38 (23.7%) patients had invasive squamous cell carcinoma with or without in situ squamous cell carcinoma. Eight of 38 (21.0%) patients had squamous cell carcinoma in situ only (without a definitive invasive component-in 3 cases invasive squamous cell carcinoma could not be excluded with certainty). In total, 19 patients (19/38; 50%) were positive for either low-risk human papillomavirus (LR-HPV) or high-risk human papillomavirus (HR-HPV) or both (3 were positive for both LR-HPV and HR-HPV, 12 patients for only LR-HPV, and 4 for only HR-HPV). Of the 19 patients that were negative for both LR-HPV and HR-HPV, 9 of 19 (47.4%) patients had associated squamous cell carcinoma. Of the 12 patients with only LR-HPV, 4 (33.3%) had associated squamous cell carcinoma (either invasive or in situ). Of the 7 patients with HR-HPV (with or without LR-HPV), 4 (57.1%) has associated squamous cell carcinoma. In summary, condyloma acuminatum of the urinary bladder shows a strong association with squamous cell carcinoma of the bladder, regardless of the condyloma's HPV in situ hybridization results. Immunosuppression is associated with condylomas of the bladder. It is important to distinguish bladder condylomas from papillary urothelial carcinoma, given their different risks for panurothelial disease and risk of squamous cell carcinoma. Recognition of bladder condylomas histologically is often challenging given their rarity, and that they can be negative for both LR-HPV and HR-HPV. The lack of a history of other anogenital human papillomavirus-related lesions further increases the difficulty in establishing the correct diagnosis.", "provenance": [ { "field": "population", "quote": "We studied 51 cases of condyloma acuminatum of the urinary bladder from transurethral resections of the urinary bladder of 38 patients" }, { "field": "n", "quote": "from transurethral resections of the urinary bladder of 38 patients" }, { "field": "primaryOutcome", "quote": "is considered to be a risk factor for squamous cell carcinoma" }, { "field": "result", "quote": "In total, 17 patients (17/38; 44.7%) had squamous cell carcinoma of the bladder, either invasive or in situ." }, { "field": "result", "quote": "condyloma acuminatum of the urinary bladder shows a strong association with squamous cell carcinoma of the bladder" }, { "field": "followUp", "quote": "The follow-up period ranged from 15 months to 20 years (median: 6 y)." }, { "field": "intervention", "quote": "Transurethral resections of the urinary bladder were obtained from 25 males with a median age of 73 years (range: 41 to 87 y) and 13 females with a median age of 68 years (range: 30 to 86 y)." } ] }, { "id": "pmid:31240623", "pmid": "31240623", "doi": "10.1007/s12328-019-01003-8", "nctId": null, "pmcid": null, "title": "Recurrent intestinal inflammation with a perianal abscess is not always Crohn's disease: a patient with a complex Meckel's diverticulum diagnosed by double-balloon endoscopy", "firstAuthor": "Hiraoka", "multipleAuthors": true, "journal": "Clin J Gastroenterol", "year": 2020, "design": "case-series", "n": 1, "nField": "reported", "population": "25-year-old man with repeated abscesses near the anus for a year, initially thought to be Crohn's disease", "intervention": "Surgical removal of an inflamed Meckel's diverticulum (a pouch in the small intestine), found using a special scope called double-balloon endoscopy", "comparator": "", "primaryOutcome": "Whether the perianal abscess was explained and resolved after treatment", "result": "The abscess was caused by an inflamed intestinal pouch (Meckel's diverticulum) rather than Crohn's disease; after surgery to remove it, the patient had no further symptoms for 6 years", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient's case report, so it cannot show how common this cause is or how reliable the treatment is for others.", "directness": "indirect", "limitations": "Only one patient was studied, there is no comparison group, and findings may not apply to most people with a bump near the anus.", "followUp": "6 years", "plainFinding": "Rare intestinal pouch caused the abscess.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31240623/", "sourceText": "Recurrent intestinal inflammation and refractory perianal abscesses are typical manifestations of Crohn's disease. However, these conditions are not always due to Crohn's disease. A 25-year-old male with recurrent perianal abscesses for 1 year, suspected to be due to Crohn's disease, was referred for further evaluation. Computed tomography scan showed a perianal abscess abutting the small intestine. A complicated Meckel's diverticulum was suspected based on these findings. Meckel's diverticulum scintigraphy was negative. Bidirectional double-balloon endoscopy (DBE) identified a long diverticulum in the ileum. In this long diverticulum, a tight stricture was seen 5 cm distal to the diverticular opening. A selective contrast study showed a 10 cm diverticulum distal to the stricture, with three strictures in the long diverticulum. Inflammation of the Meckel's diverticulum due to bacterial overgrowth was suspected as a cause of the refractory perianal abscesses. Laparoscopic diverticulectomy was performed, and the specimen showed a 10 cm diverticulum containing post-inflammatory changes with scar formation. The perianal abscess was confirmed to be caused by an inflamed Meckel's diverticulum. The patient has been asymptomatic for 6 years after resection. DBE before exploratory laparotomy should be considered to investigate the cause of an abscess that could be secondary to small intestinal pathology.", "provenance": [ { "field": "population", "quote": "A 25-year-old male with recurrent perianal abscesses for 1 year, suspected to be due to Crohn's disease, was referred for further evaluation." }, { "field": "intervention", "quote": "Laparoscopic diverticulectomy was performed" }, { "field": "intervention", "quote": "Bidirectional double-balloon endoscopy (DBE) identified a long diverticulum in the ileum." }, { "field": "result", "quote": "The perianal abscess was confirmed to be caused by an inflamed Meckel's diverticulum." }, { "field": "result", "quote": "The patient has been asymptomatic for 6 years after resection." }, { "field": "n", "quote": "A 25-year-old male" }, { "field": "primaryOutcome", "quote": "The perianal abscess was confirmed to be caused by an inflamed Meckel's diverticulum." } ] }, { "id": "pmid:31083156", "pmid": "31083156", "doi": "10.1097/MD.0000000000015243", "nctId": null, "pmcid": "PMC6531041", "title": "Laparoscopic extralevator abdominoperineal excision for the treatment of perianal Paget's disease: A case report", "firstAuthor": "Zeng", "multipleAuthors": true, "journal": "Medicine (Baltimore)", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "a 73-year-old woman with a perianal lesion initially misdiagnosed as eczema", "intervention": "laparoscopic extralevator abdominoperineal excision surgery", "comparator": "none", "primaryOutcome": "whether the perianal area was free of disease after surgery", "result": "the patient recovered well and was disease-free at 10-month check-up", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show whether this treatment works in general.", "directness": "indirect", "limitations": "Only one patient was studied, there was no comparison group, and this describes a rare cancer (Paget's disease), not common causes of anal bumps.", "followUp": "10 months", "plainFinding": "Surgery cleared rare perianal cancer", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31083156/", "sourceText": "RATIONAL: Perianal Paget's disease (PPD) is a very rare intraepithelial adenocarcinoma. Very few cases of PPD have been reported till date, so the treatment remains controversial and more experience is needed. PATIENT CONCERNS: A 73-year-old female was admitted to several hospitals with diagnosed as \"perianal eczema\" in perianal lesion. After a variety of treatments, the patient's condition did not improve. DIAGNOSES: Abdominopelvic computed tomography and rectal magnetic resonance imaging showed thickening of the soft tissue around the anus, with significant enhancement. Histologic examination revealed the state of Paget's cells. INTERVENTIONS: Laparoscopic Extralevator Abdominoperineal Excision (ELAPE) surgery was performed at our department. OUTCOMES: The patient recovered well. After 10 months, a check-up revealed that her perianal area was disease-free. LESSONS: The aim of this report was to present the characteristics of PPD in order to improve its diagnosis and treatment. Laparoscopic ELAPE is a successful therapy.", "provenance": [ { "field": "population", "quote": "A 73-year-old female was admitted to several hospitals with diagnosed as \"perianal eczema\" in perianal lesion." }, { "field": "intervention", "quote": "Laparoscopic Extralevator Abdominoperineal Excision (ELAPE) surgery was performed at our department." }, { "field": "primaryOutcome", "quote": "After 10 months, a check-up revealed that her perianal area was disease-free." }, { "field": "result", "quote": "The patient recovered well. After 10 months, a check-up revealed that her perianal area was disease-free." }, { "field": "n", "quote": "A 73-year-old female was admitted to several hospitals" }, { "field": "comparator", "quote": "Laparoscopic ELAPE is a successful therapy." } ] }, { "id": "pmid:31065367", "pmid": "31065367", "doi": "10.1177/2050640619834464", "nctId": null, "pmcid": "PMC6488796", "title": "Diagnostic accuracy of faecal calprotectin in patients with active perianal fistulas", "firstAuthor": "Stevens", "multipleAuthors": true, "journal": "United European Gastroenterol J", "year": 2019, "design": "retrospective", "n": 56, "nField": "reported", "population": "patients with active perianal fistulas (abscess/tunnel near the anus)", "intervention": "stool test (faecal calprotectin) to check for inflammation", "comparator": "patients with non-Crohn's (cryptoglandular) perianal fistulas vs those with Crohn's-related fistulas", "primaryOutcome": "ability of the stool test to tell apart Crohn's-related fistulas from ordinary ones, and to detect gut ulcers", "result": "the stool marker was much higher in Crohn's-related fistulas and could help distinguish them, but it did not reliably predict gut ulcers in Crohn's patients", "resultDirection": "mixed", "quality": "low", "qualityWhy": "This was a small, retrospective study without a comparison treatment, so its findings on a diagnostic test can't tell you why a bump occurred or how to treat it.", "directness": "indirect", "limitations": "Retrospective design, small sample size, and the test's limited ability to predict ulcers.", "followUp": "", "plainFinding": "Stool test helps identify Crohn's-related fistulas.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31065367/", "sourceText": "BACKGROUND: Faecal calprotectin (FC) is a marker of mucosal inflammation. OBJECTIVE: The aim of this study was to determine the diagnostic accuracy of FC to (a) differentiate between perianal fistulizing Crohn's disease (pCD) and cryptoglandular perianal fistulas; and (b) detect mucosal inflammation in pCD. METHODS: Patients with active perianal fistulas who had FC measured and a complete ileocolonoscopy within 10 weeks were retrospectively included. RESULTS: Fifty-six patients were included (pCD, n = 37) of whom 19 pCD patients exhibited ulcers. FC was significantly higher in pCD compared to cryptoglandular fistulas (µg/g) (708.0 (207.0-1705.0) vs 32.0 (23.0-77.0), p < 0.001). Area-under-the-curve (AUC) value for FC receiver operating characteristic (ROC) statistics was 0.900. Optimal FC cut-off was ≥ 150 µg/g. To differentiate pCD from cryptoglandular fistulas in the absence of luminal inflammation, optimal cut-off remained ≥ 150 µg/g (AUC = 0.857, sensitivity = 0.81, specificity = 0.89, positive predictive value (PPV) = 93.8% and negative predictive value (NPV) = 70.8%). In pCD, FC was significantly increased in the presence of ulcers (1672.0 vs 238.0, p = 0.004). Optimal cut-off was ≥ 250 µg/g (AUC = 0.776; sensitivity = 0.89, specificity = 0.56, PPV - 68.0% and NPV = 83.0%). CONCLUSION: FC discriminates pCD from cryptoglandular fistulas, even in the absence of intestinal ulcers. In active pCD, an elevated FC does not accurately predict the presence of ulcers and should be interpreted with caution.", "provenance": [ { "field": "population", "quote": "Patients with active perianal fistulas who had FC measured and a complete ileocolonoscopy within 10 weeks were retrospectively included." }, { "field": "intervention", "quote": "Faecal calprotectin (FC) is a marker of mucosal inflammation." }, { "field": "comparator", "quote": "FC was significantly higher in pCD compared to cryptoglandular fistulas" }, { "field": "primaryOutcome", "quote": "The aim of this study was to determine the diagnostic accuracy of FC to (a) differentiate between perianal fistulizing Crohn's disease (pCD) and cryptoglandular perianal fistulas; and (b) detect mucosal inflammation in pCD." }, { "field": "result", "quote": "FC discriminates pCD from cryptoglandular fistulas, even in the absence of intestinal ulcers. In active pCD, an elevated FC does not accurately predict the presence of ulcers and should be interpreted with caution." }, { "field": "n", "quote": "Fifty-six patients were included (pCD, n = 37)" } ] }, { "id": "pmid:31046904", "pmid": "31046904", "doi": null, "nctId": null, "pmcid": null, "title": "Extramammary Paget disease", "firstAuthor": "St Claire", "multipleAuthors": true, "journal": "Dermatol Online J", "year": 2019, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "older men and women with lesions in apocrine gland areas like the perianal region, scrotum, or vulva", "intervention": "none (this is a review of the disease)", "comparator": "none", "primaryOutcome": "description of the disease and how it is diagnosed and treated", "result": "explains that this is a rare skin condition called extramammary Paget disease, which appears as a red patch and is usually treated by surgical removal with a generally good outlook", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a general review article describing the disease rather than a study testing a treatment, so it cannot show whether treatments work.", "directness": "direct", "limitations": "The abstract does not report a study design with patients, outcomes measured, or results testing treatment effectiveness.", "followUp": "", "plainFinding": "Rare skin condition, usually treated by removal.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31046904/", "sourceText": "In 1874, Sir James Paget first described Paget disease of the nipple, also known as mammary Paget disease. In 1889, extramammary Paget disease (EMPD) of the scrotum and penis was identified. Although mammary and extramammary Paget disease are both characterized by epidermal Paget cells and share a similar clinical presentation, their uniqueness lies in anatomical location and histogenesis. EMPD presents as an erythematous plaque on apocrine gland bearing areas (i.e. vulva, perineum, perianal region, scrotum, and penis) in older men and women. It can be a focal, multifocal, or an ectopic process. Immunohistochemical staining allows for differentiation between primary and secondary EMPD in addition to the many other disease entities that clinically resemble this malignancy. When diagnosing a patient with EMPD, a full history and physical should be performed given the possibility of an underlying malignancy. Surgical excision currently is first line therapy and the prognosis is often favorable. Recent advances within the field have examined the expression of chemokine receptors within tumors, which may be applicable in determining prognosis. This review addresses the history, epidemiology, pathogenesis, clinical presentation, histopathology, differential diagnosis, diagnosis, management, and new observations with respect to extramammary Paget disease.", "provenance": [ { "field": "population", "quote": "EMPD presents as an erythematous plaque on apocrine gland bearing areas (i.e. vulva, perineum, perianal region, scrotum, and penis) in older men and women." }, { "field": "intervention", "quote": "Surgical excision currently is first line therapy and the prognosis is often favorable." }, { "field": "primaryOutcome", "quote": "This review addresses the history, epidemiology, pathogenesis, clinical presentation, histopathology, differential diagnosis, diagnosis, management, and new observations with respect to extramammary Paget disease." }, { "field": "result", "quote": "Surgical excision currently is first line therapy and the prognosis is often favorable." }, { "field": "comparator", "quote": "Immunohistochemical staining allows for differentiation between primary and secondary EMPD in addition to the many other disease entities that clinically resemble this malignancy." } ] }, { "id": "pmid:31008933", "pmid": "31008933", "doi": "10.1097/MD.0000000000015109", "nctId": null, "pmcid": "PMC6494400", "title": "Condyloma acuminata on the nipple and coronary sulcus of the penis: A case report", "firstAuthor": "Wu", "multipleAuthors": true, "journal": "Medicine (Baltimore)", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "29-year-old man with wart-like growths on nipple and penis after sexual contact", "intervention": "Microwave therapy plus imiquimod cream applied to the skin", "comparator": "No comparison treatment", "primaryOutcome": "Whether the growths came back after treatment", "result": "No signs of the growths returning after six months", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, which cannot show whether the treatment works in general.", "directness": "indirect", "limitations": "Only one patient, no comparison group, and the lesions were on the nipple and penis rather than the anus.", "followUp": "6 months", "plainFinding": "Genital wart cleared with treatment.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/31008933/", "sourceText": "RATIONALE: Condyloma acuminatum (CA) is a benign tumor primarily caused by infection with human papillomavirus (HPV) type-6 or type-11, lesions of which are most frequently found on the genital and perianal squamous mucosa and skin. CA outside the genitals is not common. PATIENT CONCERNS: A 29-year-old male presented with lesions on the left nipple and coronary sulcus after heterosexual contact. DIAGNOSES: Histopathological examination and HPV detection made a definite diagnosis of CA. INTERVENTION: The patient was treated with microwave and topical imiquimod cream. OUTCOMES: After 6 months follow-up, there was no sign of recurrence. LESSONS: This case shows that we should pay more attention to CA outside the genitals in the process of diagnosis and treatment.", "provenance": [ { "field": "population", "quote": "A 29-year-old male presented with lesions on the left nipple and coronary sulcus after heterosexual contact." }, { "field": "intervention", "quote": "The patient was treated with microwave and topical imiquimod cream." }, { "field": "comparator", "quote": "INTERVENTION: The patient was treated with microwave and topical imiquimod cream." }, { "field": "primaryOutcome", "quote": "After 6 months follow-up, there was no sign of recurrence." }, { "field": "result", "quote": "After 6 months follow-up, there was no sign of recurrence." }, { "field": "n", "quote": "A 29-year-old male presented with lesions on the left nipple and coronary sulcus after heterosexual contact." } ] }, { "id": "pmid:30862258", "pmid": "30862258", "doi": "10.1177/0036933019836405", "nctId": null, "pmcid": null, "title": "Hyperimmunoglobulinemia D syndrome with recurrent perianal abscess successfully treated with canakinumab", "firstAuthor": "Miray Kisla Ekinci", "multipleAuthors": true, "journal": "Scott Med J", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "an 18-month-old patient with recurrent attacks of fever and pharyngitis lasting 2-3 days every 10-15 days since the first two weeks of life", "intervention": "canakinumab (a medication that blocks inflammation)", "comparator": "", "primaryOutcome": "improvement of symptoms and healing of perianal abscess/fistula", "result": "the patient was clinically improved with complete healing of perianal fistulas/abscesses", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so the findings may not apply to others and there is no comparison group to rule out other explanations.", "directness": "indirect", "limitations": "only one patient was reported, with no control group, and the underlying condition (hyperimmunoglobulinaemia D syndrome) is a rare specific disease rather than typical causes of a perianal bump.", "followUp": "", "plainFinding": "Rare disease; abscess healed with drug.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/30862258/", "sourceText": "Hyperimmunoglobulinaemia D syndrome is an autoinflammatory disease usually representing recurrent episodes of fever, arthralgia/arthritis, cervical lymphadenopathy, vomiting, diarrhoea, abdominal pain and skin rashes lasting 3-7 days every 4-8 weeks since their infancy. Recent reports suggested a link between perianal fistulae/abscess and severe colitis with hyperimmunoglobulinaemia D syndrome resembling an inflammatory bowel disease phenotype. Herein, we report an 18-month-old patient with recurrent attacks of fever and pharyngitis lasting 2-3 days every 10-15 days since the first two weeks of life. Inflammatory attacks were accompanied by diarrhoea, oral aphthous ulcers, cervical lymphadenopathy, maculopapular rash, severe leukocytosis and perianal fistulae/abscess. After the initiation of canakinumab, the patient was clinically improved with complete healing of perianal fistulas/abscesses. In conclusion, hyperimmunoglobulinaemia D syndrome should be considered in differential diagnosis of inflammatory bowel disease and recurrent perianal abscess/fistula in a patient with inflammatory attacks.", "provenance": [ { "field": "population", "quote": "an 18-month-old patient with recurrent attacks of fever and pharyngitis lasting 2-3 days every 10-15 days since the first two weeks of life" }, { "field": "intervention", "quote": "After the initiation of canakinumab" }, { "field": "primaryOutcome", "quote": "complete healing of perianal fistulas/abscesses" }, { "field": "result", "quote": "the patient was clinically improved with complete healing of perianal fistulas/abscesses" }, { "field": "n", "quote": "an 18-month-old patient" } ] }, { "id": "pmid:30253739", "pmid": "30253739", "doi": "10.1186/s12885-018-4815-6", "nctId": null, "pmcid": "PMC6157056", "title": "Rare perianal extramammary Paget disease successfully treated using topical Imiquimod therapy", "firstAuthor": "Dos Santos", "multipleAuthors": true, "journal": "BMC Cancer", "year": 2018, "design": "case-series", "n": null, "nField": "not-reported", "population": "a patient with perianal Paget's disease, a rare skin cancer near the anus", "intervention": "topical Imiquimod 5% cream", "comparator": "none (single case, no comparison group)", "primaryOutcome": "successful treatment of the perianal lesion", "result": "the lesion was successfully treated with Imiquimod cream", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show whether this treatment works reliably for others.", "directness": "indirect", "limitations": "Single case report; no comparison group; abstract does not report follow-up duration or confirm this reflects typical bumps near the anus, which are usually due to far more common causes like hemorrhoids or skin tags.", "followUp": "", "plainFinding": "Rare cancer, cleared with cream.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/30253739/", "sourceText": "BACKGROUND: Perianal Paget's disease (PPD) is a rare intraepithelial adenocarcinoma of the anal margin. Primary PPD likely represents intra-epithelial neoplasm from an apocrine source, whereas secondary disease may represent \"pagetoid\" spread from an anorectal malignancy. CASE PRESENTATION: Histologic CDX-2 and CK20 are hallmark markers for colorectal-derived Paget's cells. Interestingly, our primary PPD patient presented both positive and no internal malignancy was identified. In addition, a negative CK7 marker was observed in our case in contrast with previously reported. Surgical excision is the standard treatment; however, previous studies have demonstrated good response with Imiquimod 5% cream in patients with vulval extramammary Paget disease (EMPD). The efficiency of Imiquimod treatment for PPD has not been well described. Our PPD patient was successfully treated using Imiquimod 5% cream. CONCLUSIONS: This study describes a primary cutaneous PPD patient CDX-2+/CK20+/CK7- without invasion of the dermis and no associated colorectal carcinoma effectively treated using topical Imiquimod therapy, suggesting that Imiquimod might potentially be considered as a first-line treatment for PPD.", "provenance": [ { "field": "population", "quote": "Our PPD patient was successfully treated using Imiquimod 5% cream." }, { "field": "population", "quote": "Perianal Paget's disease (PPD) is a rare intraepithelial adenocarcinoma of the anal margin." }, { "field": "intervention", "quote": "topical Imiquimod therapy" }, { "field": "intervention", "quote": "Imiquimod 5% cream" }, { "field": "comparator", "quote": "Surgical excision is the standard treatment; however, previous studies have demonstrated good response with Imiquimod 5% cream in patients with vulval extramammary Paget disease (EMPD)." }, { "field": "primaryOutcome", "quote": "Our PPD patient was successfully treated using Imiquimod 5% cream." }, { "field": "result", "quote": "effectively treated using topical Imiquimod therapy" } ] }, { "id": "pmid:30238810", "pmid": "30238810", "doi": "10.1177/1066896918801527", "nctId": null, "pmcid": null, "title": "Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case", "firstAuthor": "Spasic", "multipleAuthors": true, "journal": "Int J Surg Pathol", "year": 2019, "design": "case-series", "n": 1, "nField": "reported", "population": "a woman with long-term severe Crohn's disease and anal pain and bleeding", "intervention": "none (diagnostic case report, treated with full colon and rectum removal surgery)", "comparator": "none", "primaryOutcome": "what type of growth or mass was found in the bowel", "result": "a rare blood vessel tumor (epithelioid hemangioendothelioma) was found hidden under an anal ulcer, mimicking scar tissue and fissures from Crohn's disease", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient's case, so it cannot show how common or likely this is for anyone else.", "directness": "indirect", "limitations": "Single case report; no comparison group; findings may not generalize to typical anal bumps.", "followUp": "", "plainFinding": "Rare tumor hidden under anal ulcer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/30238810/", "sourceText": "BACKGROUND: Epithelioid hemangioendothelioma (EHE) is an uncommon malignant endothelial neoplasm that most commonly arises in soft tissue, bone, lung, and liver. Crohn's disease (CD) is an inflammatory bowel disease of unknown etiology that is frequently associated with complications including strictures, fistulas/fissures, and neoplasms. CASE DESCRIPTION: A 43-year-old woman with a 6-year history of severe CD presented with anal pain and bleeding. She had prior partial colectomy for a stricture and a diverting ileostomy for perianal fissures and stricture. Colonoscopy showed severe chronic active colitis, stricture at 30 cm of anal verge, and a perianal fistula. The patient underwent total proctocolectomy. The colonic mucosa exhibited segmental ulceration and irregular thickening of the colon wall. Beneath an ulcer of the anal canal within the muscularis propria was a 1.2-cm poorly circumscribed, firm, white-tan mass. The mass was composed of cords and groups of large epithelioid endothelial cells with intracytoplasmic vacuoles enmeshed in a myxohyaline stroma. Immunohistochemically, the tumor cells were positive for ERG, CD31, and CAMTA1 and focally positive for keratin and SMA. Next-generation sequencing revealed a WWTR1-CMATA1 fusion. The morphology, immunoprofile, and molecular genetics were diagnostic of EHE. DISCUSSION: Long-standing inflammatory bowel disease is associated with significant risk for developing neoplasms, usually carcinomas, which can be indistinguishable radiologically and clinically from nonneoplastic complications. These tumors are often identified as an incidental finding in specimens resected for clinically severe disease. This is the first report of EHE arising in the bowel affected by CD, and it mimicked mural fibrosis and fissures.", "provenance": [ { "field": "n", "quote": "A 43-year-old woman with a 6-year history of severe CD presented with anal pain and bleeding." }, { "field": "population", "quote": "A 43-year-old woman with a 6-year history of severe CD presented with anal pain and bleeding." }, { "field": "result", "quote": "Beneath an ulcer of the anal canal within the muscularis propria was a 1.2-cm poorly circumscribed, firm, white-tan mass." }, { "field": "result", "quote": "The morphology, immunoprofile, and molecular genetics were diagnostic of EHE." }, { "field": "primaryOutcome", "quote": "The colonic mucosa exhibited segmental ulceration and irregular thickening of the colon wall." }, { "field": "intervention", "quote": "The patient underwent total proctocolectomy." }, { "field": "comparator", "quote": "CASE DESCRIPTION" } ] }, { "id": "pmid:30168336", "pmid": "30168336", "doi": "10.17235/reed.2018.5657/2018", "nctId": null, "pmcid": null, "title": "Adenocarcinoma of the anal canal with an exceptional immunohistochemistry in a patient with serrated polyposis syndrome: a diagnostic challenge", "firstAuthor": "Ruano Campos", "multipleAuthors": true, "journal": "Rev Esp Enferm Dig", "year": 2018, "design": "case-series", "n": 1, "nField": "reported", "population": "a patient with serrated polyposis syndrome who had haemorrhoid surgery", "intervention": "none (incidental diagnostic finding)", "comparator": "", "primaryOutcome": "diagnosis of the anal lump after surgery", "result": "anal cancer (adenocarcinoma) found incidentally after haemorrhoid surgery, with unusual test results making diagnosis difficult", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this cause is or how to treat it.", "directness": "indirect", "limitations": "single case report; no information on treatment or outcome; diagnosis itself described as difficult", "followUp": "", "plainFinding": "Rare cancer found incidentally.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/30168336/", "sourceText": "Anal adenocarcinomas account for approximately 10% of all anorectal tumours. We present the case of an adenocarcinoma of the proximal anal canal with exceptional immunohistochemistry as an incidental finding after haemorrhoidectomy, in a patient with endoscopically controlled serrated polyposis syndrome. Histopathological analysis of the specimen was a challenge in terms of differential diagnosis, which often determines the choice of therapeutic approach.", "provenance": [ { "field": "n", "quote": "We present the case of an adenocarcinoma" }, { "field": "population", "quote": "a patient with endoscopically controlled serrated polyposis syndrome" }, { "field": "intervention", "quote": "as an incidental finding after haemorrhoidectomy" }, { "field": "primaryOutcome", "quote": "Histopathological analysis of the specimen was a challenge in terms of differential diagnosis" }, { "field": "result", "quote": "an adenocarcinoma of the proximal anal canal with exceptional immunohistochemistry as an incidental finding after haemorrhoidectomy" } ] }, { "id": "pmid:30045063", "pmid": "30045063", "doi": "10.1097/PAS.0000000000001130", "nctId": null, "pmcid": null, "title": "Treatment Effects Can Mimic Recurrent Extramammary Paget Disease in Perianal Skin", "firstAuthor": "Pittman", "multipleAuthors": true, "journal": "Am J Surg Pathol", "year": 2018, "design": "case-series", "n": 3, "nField": "reported", "population": "women previously treated for perianal Paget disease (a skin condition near the anus)", "intervention": "surgical removal with skin grafting plus topical chemotherapy (5-fluorouracil) after treatment", "comparator": "no comparator; looked at biopsy samples over time in the same patients", "primaryOutcome": "whether treatment-related changes in skin cells could be told apart from true disease recurrence under the microscope", "result": "treatment caused look-alike cell changes that could be mistaken for recurrent disease, but a special stain (CK7) could tell real recurrence apart", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a report of only 3 patients with no comparison group, so it cannot show whether a treatment works, only describe diagnostic appearances.", "directness": "indirect", "limitations": "Only 3 patients studied; descriptive pathology review, not a treatment comparison; findings specific to a diagnosed skin cancer condition (Paget disease), not to bumps in general.", "followUp": "", "plainFinding": "Treatment changes can look like recurrence.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/30045063/", "sourceText": "The histologic differential diagnosis of perianal Paget disease includes malignant melanoma, pagetoid spread of squamous cell carcinoma, and secondary involvement by colorectal carcinoma. While consideration of these entities is useful when establishing a diagnosis, it does not apply when patients with Paget disease undergo surveillance for recurrent disease. Treatment of perianal Paget disease consists of a combination of surgical excision with skin grafts and topical chemotherapeutic agents that induce cytologic alterations in benign cells and simulate recurrent malignancy. To evaluate the therapy-related changes and possible diagnostic pitfalls in patients with Paget disease, we reviewed 412 posttreatment tissue samples from 3 women with primary perianal Paget disease who underwent wide excision, skin grafting, and topical 5-fluorouracil therapy. Biopsy samples from engrafted skin often displayed single and clustered cells with hyperchromatic nuclei dispersed in the deep epidermis. Similar cells were scattered throughout all levels of the epidermis in biopsy samples following topical chemotherapy. The abnormal cells were negative for cytokeratin 7 (CK7) and mucicarmine in both situations. Disease ultimately recurred in all patients; some Paget cells showed classic features with eosinophilic or mucinous cytoplasm and eccentric nuclei, whereas others were smaller with less conspicuous atypia. All Paget cells showed strong, membranous CK7 staining. In short, treatment of perianal Paget disease can elicit cytologic abnormalities in benign epithelial cells that simulate the cytologic features of recurrent disease, and can diminish the atypia of Paget cells. Immunohistochemical stains for CK7 can be helpful when evaluating surveillance samples from these patients.", "provenance": [ { "field": "n", "quote": "we reviewed 412 posttreatment tissue samples from 3 women with primary perianal Paget disease" }, { "field": "population", "quote": "3 women with primary perianal Paget disease who underwent wide excision, skin grafting, and topical 5-fluorouracil therapy" }, { "field": "intervention", "quote": "wide excision, skin grafting, and topical 5-fluorouracil therapy" }, { "field": "comparator", "quote": "we reviewed 412 posttreatment tissue samples from 3 women with primary perianal Paget disease" }, { "field": "primaryOutcome", "quote": "To evaluate the therapy-related changes and possible diagnostic pitfalls in patients with Paget disease" }, { "field": "result", "quote": "treatment of perianal Paget disease can elicit cytologic abnormalities in benign epithelial cells that simulate the cytologic features of recurrent disease, and can diminish the atypia of Paget cells. Immunohistochemical stains for CK7 can be helpful when evaluating surveillance samples from these patients." } ] }, { "id": "pmid:29944581", "pmid": "29944581", "doi": "10.1097/DCR.0000000000001099", "nctId": null, "pmcid": null, "title": "Diagnostic Accuracy of 3-Dimensional Endoanal Ultrasound in Identifying Perianal Crohn's Fistulas", "firstAuthor": "Luglio", "multipleAuthors": true, "journal": "Dis Colon Rectum", "year": 2018, "design": "prospective-cohort", "n": 158, "nField": "reported", "population": "patients referred for suspected perianal sepsis", "intervention": "3-dimensional endoanal ultrasound scan of the anus", "comparator": "final diagnosis of fistula type (Crohn's disease vs. cryptoglandular)", "primaryOutcome": "how well ultrasound features could tell Crohn's-related fistulas apart from ordinary (cryptoglandular) fistulas", "result": "the width of the fistula tract and other ultrasound features were highly accurate at telling the two fistula types apart, with some combinations being very specific or very sensitive", "resultDirection": "benefit", "quality": "moderate", "qualityWhy": "it was a single-center study where some patients labeled as having an ordinary fistula could later turn out to have Crohn's disease, which could skew the accuracy numbers", "directness": "indirect", "limitations": "Patients included in the cryptogenic group might be diagnosed as having Crohn's disease at follow-up.", "followUp": "", "plainFinding": "Ultrasound tells fistula types apart.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/29944581/", "sourceText": "BACKGROUND: Perianal fistulizing Crohn's disease is a challenging clinical situation that requires proper management. Some features seen on the endoanal ultrasound can be helpful in discriminating between cryptoglandular and Crohn's disease fistulas. OBJECTIVE: The aim of this study was to define the diagnostic accuracy of 3-dimensional endoanal ultrasound in differentiating between Crohn's disease and cryptogenic fistulas. DESIGN: This was a prospective observational study. SETTINGS: The study was conducted in the colorectal unit of an IBD referral center. PATIENTS: Consecutive patients referred for suspected perianal sepsis from September 2015 to December 2016 were included. INTERVENTIONS: Three-dimensional endoanal ultrasonography was the studied intervention. MAIN OUTCOMES MEASURES: Sensitivity, specificity, and positive and negative likelihood ratios of 4 ultrasonographic features (Crohn's ultrasound fistula sign, the presence of a double track, debris or an abscess within the fistula track, and the maximum width of the track) in discriminating between cryptoglandular and Crohn's disease fistulas were calculated. The interobserver agreement for each feature was quantified. RESULTS: In this study, 158 patients, of whom 33 had a diagnosis of Crohn's disease, were included. The interobserver agreement was good for all of the ultrasonographic features. All of these features were more frequent in cases of Crohn's disease fistulas (p = 0.0001). The maximum width of the fistula track was highly accurate for discriminating between cryptogenic and Crohn's disease fistulas (area under the receiver operating characteristic curve = 0.922). The simultaneous presence of 2 features was suggestive of Crohn's disease fistula. In particular, the presence of a track width >4 mm in conjunction with either a double track or the Crohn's ultrasound fistula sign showed very high specificity (1.00). Conversely, a fistula track width ≤3 mm had high sensitivity (0.97). LIMITATIONS: Patients included in the cryptogenic group might be diagnosed as having Crohn's disease at follow-up. CONCLUSIONS: The combination of specific endoanal ultrasonographic features allows for highly accurate discrimination between Crohn's disease and cryptogenic fistulas. See Video Abstract at http://links.lww.com/DCR/A619.", "provenance": [ { "field": "n", "quote": "158 patients, of whom 33 had a diagnosis of Crohn's disease, were included." }, { "field": "population", "quote": "Consecutive patients referred for suspected perianal sepsis from September 2015 to December 2016 were included." }, { "field": "intervention", "quote": "Three-dimensional endoanal ultrasonography was the studied intervention." }, { "field": "comparator", "quote": "discriminating between cryptoglandular and Crohn's disease fistulas" }, { "field": "primaryOutcome", "quote": "Sensitivity, specificity, and positive and negative likelihood ratios of 4 ultrasonographic features (Crohn's ultrasound fistula sign, the presence of a double track, debris or an abscess within the fistula track, and the maximum width of the track) in discriminating between cryptoglandular and Crohn's disease fistulas were calculated." }, { "field": "result", "quote": "The maximum width of the fistula track was highly accurate for discriminating between cryptogenic and Crohn's disease fistulas (area under the receiver operating characteristic curve = 0.922)." } ] }, { "id": "pmid:29622704", "pmid": "29622704", "doi": "10.1136/bcr-2017-223063", "nctId": null, "pmcid": "PMC5893951", "title": "Mucinous adenocarcinoma arising from chronic perianal fistula mimicking horseshoe abscess", "firstAuthor": "Prasad", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2018, "design": "case-series", "n": 1, "nField": "reported", "population": "34-year-old woman with a long-standing perianal fistula", "intervention": "none (diagnostic workup of the fistula)", "comparator": "", "primaryOutcome": "diagnosis of the mass arising from the fistula", "result": "Imaging looked like a large abscess, but biopsy showed it was actually a rare cancer (mucinous adenocarcinoma) growing from the chronic fistula", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common or likely this cause is, only that it can happen.", "directness": "direct", "limitations": "Only one patient is described, so findings cannot be generalised.", "followUp": "", "plainFinding": "Rare cancer mimicking an abscess.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/29622704/", "sourceText": "Perianal fistulae are commonly seen clinical entity. Development of malignancy within a perianal fistula is rare. Even rarer is the development of mucinous adenocarcinoma in a chronic fistula-in-ano. Only a handful of such cases have been reported in the past. A case of mucinous adenocarcinoma arising in chronic perianal fistula in a 34-year-old woman is being described. She presented with complaints of perineal fullness, pain and recurrent pus discharge from perianal fistula for 4 years. On radiological workup, a large solid-cystic pelvic mass was seen in relation to the fistula. On MRI, the lesion was mimicking a large horseshoe abscess. Transrectal ultrasound-guided biopsy and subsequent histopathological examination confirmed the presence of mucinous adenocarcinoma with tumour cells immunopositive for CK7 and CK20.", "provenance": [ { "field": "population", "quote": "A case of mucinous adenocarcinoma arising in chronic perianal fistula in a 34-year-old woman is being described." }, { "field": "n", "quote": "a 34-year-old woman" }, { "field": "intervention", "quote": "Transrectal ultrasound-guided biopsy and subsequent histopathological examination confirmed the presence of mucinous adenocarcinoma with tumour cells immunopositive for CK7 and CK20." }, { "field": "primaryOutcome", "quote": "histopathological examination confirmed the presence of mucinous adenocarcinoma" }, { "field": "result", "quote": "On MRI, the lesion was mimicking a large horseshoe abscess. Transrectal ultrasound-guided biopsy and subsequent histopathological examination confirmed the presence of mucinous adenocarcinoma with tumour cells immunopositive for CK7 and CK20." } ] }, { "id": "pmid:29442064", "pmid": "29442064", "doi": "10.11138/gchir/2017.38.6.313", "nctId": null, "pmcid": "PMC5885794", "title": "Pilonidal disease mimicking anterior anal fistula and associated with posterior anal fistula: a two-step surgery. Case report", "firstAuthor": "Eberspacher", "multipleAuthors": true, "journal": "G Chir", "year": 2017, "design": "case-series", "n": 1, "nField": "reported", "population": "a 36-year-old man with an anal fistula", "intervention": "two-step surgery (fistulectomy, abscess drainage, seton placement, then excision of pilonidal sinus)", "comparator": "none", "primaryOutcome": "healing of the fistula and pilonidal disease", "result": "good healing of the posterior anal fistula and successful removal of the pilonidal sinus after two-step surgery", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how often this happens or how well treatment works in general.", "directness": "direct", "limitations": "only one patient described, no comparison group, and diagnosis was missed before surgery even with imaging.", "followUp": "about one month", "plainFinding": "Rare bump was misdiagnosed pilonidal disease, healed after surgery.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/29442064/", "sourceText": "AIM: Anal fistula is a common disease originated from abscess according the cryptoglandular theory. A rare etiology is the pilonidal disease. In our case we observed a pilonidal disease mimicking an anterior perianal fistula, associated with another posterior anal fistula. CASE PRESENTATION: A 36-year old man was referred to our department with an anal fistula with an anterior opening. Despite the clinical examination and the endoanal ultrasound, only during the surgery we discovered the origin of the anterior fistula from a misdiagnosed pilonidal sinus. There was also a posterior anal fistula in communication with the same abscess of the anterior one. We performed a two-step surgery with a first fistulectomy of the anterior tract, a drainage of abscess and the positioning of a seton for the posterior fistula. After about one month and the fall of the seton we evaluate the good healing of posterior anal fistula and excised the residual pilonidal sinus. CONCLUSION: This misdiagnosed pilonidal disease created in our clinical report a true challenge. Our goal was to eliminate as much disease as possible, but also to avoid major complications or recurrences. We refused an aggressive approach and chose a two-step surgery, with in the first approach not only a demolitive time but also a reconstruction to facilitate healing, and in the second time the complete eradication of the pathology.", "provenance": [ { "field": "population", "quote": "A 36-year old man was referred to our department with an anal fistula with an anterior opening." }, { "field": "n", "quote": "A 36-year old man" }, { "field": "intervention", "quote": "We performed a two-step surgery with a first fistulectomy of the anterior tract, a drainage of abscess and the positioning of a seton for the posterior fistula." }, { "field": "comparator", "quote": "We refused an aggressive approach and chose a two-step surgery" }, { "field": "primaryOutcome", "quote": "we evaluate the good healing of posterior anal fistula and excised the residual pilonidal sinus" }, { "field": "result", "quote": "we evaluate the good healing of posterior anal fistula and excised the residual pilonidal sinus" }, { "field": "followUp", "quote": "After about one month and the fall of the seton" } ] }, { "id": "pmid:28873483", "pmid": "28873483", "doi": null, "nctId": null, "pmcid": null, "title": "A rare case of amelanotic anorectal melanoma", "firstAuthor": "Negbenebor", "multipleAuthors": true, "journal": "R I Med J (2013)", "year": 2017, "design": "case-series", "n": 1, "nField": "reported", "population": "74-year-old man with rectal bleeding and an anal nodule", "intervention": "none (diagnostic case report)", "comparator": "none", "primaryOutcome": "correct diagnosis of the anal lesion", "result": "Anal nodule initially misdiagnosed as a hemorrhoid was later found by biopsy to be an amelanotic (non-pigmented) anorectal melanoma", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how well any treatment works.", "directness": "direct", "limitations": "Single case only, no comparison group, and diagnosis was delayed by a month.", "followUp": "", "plainFinding": "Rare melanoma mistaken for hemorrhoid.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28873483/", "sourceText": "We report an exceedingly rare case of amelanotic anorectal melanoma misdiagnosed as hemorrhoids. A 74-year-old man presented with a week's history of \"blood on toilet tissue\" without bowel complaints or history of cutaneous melanoma. Skin evaluation was normal. Rectal exam was negative for blood, but revealed an anal nodule, interpreted as a hemorrhoid. Hemoglobin was normal; bleeding persisted. After one month, colonoscopy detected a non-pigmented anal lesion. Biopsy showed melanoma. Noncutaneous mucosal melanoma represents 0.03% of new cancer diagnoses Anorectal melanoma accounts for 1% of melanomas and 0.4% of anal malignancies. Uncommonly, this malignancy lacks melanin pigment, complicating detection. Presenting complaints are non-specific rectal bleeding, pain, itching or incontinence, mimicking more common disorders. Dangerous misdiagnosis occurs when benign disease, not malignancy, is suspected. Risk factors for cutaneous melanoma are less frequent. Mucosal melanoma has different genetics. Clinicians must be aware of diagnostic difficulties of anorectal melanoma, especially when amelanotic. [Full article available at http://rimed.org/rimedicaljournal-2017-09.asp].", "provenance": [ { "field": "n", "quote": "A 74-year-old man presented with a week's history of \"blood on toilet tissue\"" }, { "field": "population", "quote": "A 74-year-old man presented with a week's history of \"blood on toilet tissue\" without bowel complaints or history of cutaneous melanoma." }, { "field": "intervention", "quote": "Rectal exam was negative for blood, but revealed an anal nodule, interpreted as a hemorrhoid." }, { "field": "comparator", "quote": "We report an exceedingly rare case of amelanotic anorectal melanoma misdiagnosed as hemorrhoids." }, { "field": "primaryOutcome", "quote": "After one month, colonoscopy detected a non-pigmented anal lesion. Biopsy showed melanoma." }, { "field": "result", "quote": "We report an exceedingly rare case of amelanotic anorectal melanoma misdiagnosed as hemorrhoids." } ] }, { "id": "pmid:28871380", "pmid": "28871380", "doi": "10.1007/s00261-017-1306-1", "nctId": null, "pmcid": null, "title": "MRI of anal canal: common anal and perianal disorders beyond fistulas: Part 2", "firstAuthor": "Erden", "multipleAuthors": false, "journal": "Abdom Radiol (NY)", "year": 2018, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal pain or anorectal symptoms", "intervention": "MRI imaging of the anal canal", "comparator": "", "primaryOutcome": "identifying the cause of anal/perianal symptoms such as neoplasms, hemorrhoids, or sphincter damage", "result": "The abstract describes MRI findings for conditions like tumors, hemorrhoids, vascular malformations, and sphincter damage, without reporting a specific comparative result", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a narrative review describing imaging findings rather than a study testing a treatment or comparing outcomes.", "directness": "indirect", "limitations": "No patient numbers, no outcome data, and no comparison group; this is a descriptive imaging review, not a study of treatment effectiveness.", "followUp": "", "plainFinding": "Describes possible causes, not a treatment finding.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28871380/", "sourceText": "A broad spectrum of disease, from benign processes to life-threatening pathologies, can cause anal pain. MR imaging (MRI) has become increasingly widely used method over the past two decades for the evaluation of individuals with anorectal symptoms. Although imaging is rarely necessary to determine the etiology of the majority of cases, MRI is particularly useful as a noninvasive method of excluding severe neoplastic conditions. In this article, MRI findings of a number of pathologies such as anal and perianal neoplasms, hemorrhoidal disease, arteriovenous malformation of the perianal region, and anal sphincter lesions (defects, scarring, atrophy) which may lead to fecal incontinence are presented.", "provenance": [ { "field": "population", "quote": "individuals with anorectal symptoms" }, { "field": "intervention", "quote": "MR imaging (MRI) has become increasingly widely used method over the past two decades for the evaluation of individuals with anorectal symptoms" }, { "field": "primaryOutcome", "quote": "MRI findings of a number of pathologies such as anal and perianal neoplasms, hemorrhoidal disease, arteriovenous malformation of the perianal region, and anal sphincter lesions (defects, scarring, atrophy) which may lead to fecal incontinence are presented" }, { "field": "result", "quote": "MRI is particularly useful as a noninvasive method of excluding severe neoplastic conditions" } ] }, { "id": "pmid:28609809", "pmid": "28609809", "doi": "10.1111/tmi.12908", "nctId": null, "pmcid": null, "title": "Intestinal tuberculosis: a diagnostic challenge", "firstAuthor": "Kentley", "multipleAuthors": true, "journal": "Trop Med Int Health", "year": 2017, "design": "retrospective", "n": 61, "nField": "reported", "population": "adults with intestinal tuberculosis, mostly born abroad in TB-endemic areas", "intervention": "none (observational study of diagnosis, not a treatment)", "comparator": "not reported", "primaryOutcome": "time to diagnosis and diagnostic findings of intestinal TB", "result": "median time from symptom onset to diagnosis was 13 weeks, and five patients had isolated perianal disease", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a small retrospective single-hospital case series without a comparison group, so it can only describe patterns, not prove cause or treatment effect.", "directness": "indirect", "limitations": "Retrospective design, single center, no comparator group, and diagnosis was often delayed or initially misattributed to IBD.", "followUp": "", "plainFinding": "Perianal lump can be TB.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28609809/", "sourceText": "OBJECTIVE: To describe characteristics, presentation, time to diagnosis and diagnostic findings of patients with intestinal tuberculosis (ITB) in a low-burden country. METHOD: Retrospective study of 61 consecutive ITB patients diagnosed between 2008 and 2014 at a large East London hospital. RESULTS: Forty of sixty-one patients were male. Mean age was 34.6 years. 93% of patients were born abroad, mostly from TB-endemic areas (Indian subcontinent: 88%, Africa: 9%). 25% had concomitant pulmonary TB. Median time from symptom onset to ITB diagnosis was 13 weeks (IQR 3-26 weeks). Ten patients were initially treated for IBD, although patients had ITB. The main sites of ITB involvement were the ileocaecum (44%) or small bowel (34%). Five patients had isolated perianal disease. Colonoscopy confirmed a diagnosis of ITB in 77% of those performed. 42 of 61 patients had a diagnosis of ITB confirmed on positive histology and/or microbiology. CONCLUSION: Diagnosis of ITB is often delayed, which may result in significant morbidity. ITB should be excluded in patients with abdominal complaints who come from TB-endemic areas to establish prompt diagnosis and treatment. Diagnosis is challenging but aided by axial imaging, colonoscopy and tissue biopsy for TB culture and histology.", "provenance": [ { "field": "n", "quote": "Retrospective study of 61 consecutive ITB patients diagnosed between 2008 and 2014 at a large East London hospital." }, { "field": "population", "quote": "93% of patients were born abroad, mostly from TB-endemic areas" }, { "field": "intervention", "quote": "Retrospective study of 61 consecutive ITB patients diagnosed between 2008 and 2014" }, { "field": "comparator", "quote": "Ten patients were initially treated for IBD, although patients had ITB." }, { "field": "primaryOutcome", "quote": "To describe characteristics, presentation, time to diagnosis and diagnostic findings of patients with intestinal tuberculosis (ITB) in a low-burden country." }, { "field": "result", "quote": "Median time from symptom onset to ITB diagnosis was 13 weeks (IQR 3-26 weeks)." }, { "field": "result", "quote": "Five patients had isolated perianal disease." } ] }, { "id": "pmid:28567655", "pmid": "28567655", "doi": "10.1007/s11894-017-0574-9", "nctId": null, "pmcid": null, "title": "The Evaluation and Office Management of Hemorrhoids for the Gastroenterologist", "firstAuthor": "Guttenplan", "multipleAuthors": false, "journal": "Curr Gastroenterol Rep", "year": 2017, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with hemorrhoid disease seen by gastroenterologists", "intervention": "office-based evaluation and treatment of hemorrhoids", "comparator": "surgical intervention", "primaryOutcome": "ability to manage hemorrhoids without surgery", "result": "most patients can be treated in the office and avoid surgery", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a narrative review summarizing general knowledge and practice recommendations, not a study testing an intervention.", "directness": "indirect", "limitations": "no original data, no defined outcomes or comparisons, purely descriptive review", "followUp": "", "plainFinding": "Bump may be a hemorrhoid, often treatable without surgery.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28567655/", "sourceText": "PURPOSE OF REVIEW: Hemorrhoid disease is extremely common, and seldom requires surgical intervention. The vast majority of patients can be cared for in the office setting and by the gastroenterologist. This piece aims to summarize the epidemiology and pathophysiology of hemorrhoid disease, along with the proper evaluation and office-based treatment of these patients. RECENT FINDINGS: Most GI fellowship training programs spend little time on these topics, and the recommendation has been made to include anorectal care in the GI's \"core curriculum.\" The use of the anoscope and a proper anorectal examination are keys to evaluating these patients, and the techniques available to treat these patients are described. Often overlooked in these patients are other anorectal issues that occur alongside hemorrhoidal issues very commonly-the most common being anal fissure. Comprehensive management of all of these issues will allow all but the most severely affected patients to avoid the expense and morbidity of surgical intervention. The anatomy, etiology, pathophysiology, diagnosis, and non-surgical treatment of hemorrhoid disease are presented with the gastroenterologist in mind.", "provenance": [ { "field": "population", "quote": "Hemorrhoid disease is extremely common, and seldom requires surgical intervention." }, { "field": "intervention", "quote": "the proper evaluation and office-based treatment of these patients" }, { "field": "comparator", "quote": "avoid the expense and morbidity of surgical intervention" }, { "field": "primaryOutcome", "quote": "Comprehensive management of all of these issues will allow all but the most severely affected patients to avoid the expense and morbidity of surgical intervention." }, { "field": "result", "quote": "Comprehensive management of all of these issues will allow all but the most severely affected patients to avoid the expense and morbidity of surgical intervention." } ] }, { "id": "pmid:28284459", "pmid": "28284459", "doi": "10.1067/j.cpradiol.2017.01.004", "nctId": null, "pmcid": null, "title": "Unexpected Presentation of Perianal Granular Cell Tumor in a Young Woman", "firstAuthor": "Rashidi", "multipleAuthors": true, "journal": "Curr Probl Diagn Radiol", "year": 2017, "design": "case-series", "n": 1, "nField": "reported", "population": "a 36-year-old woman with a painless lump near the anus", "intervention": "surgical removal of the lump", "comparator": "none", "primaryOutcome": "what the lump turned out to be on biopsy", "result": "the lump was a rare benign tumor called a granular cell tumor", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a report of a single patient, so it cannot show how common this cause is or how well treatment works in general", "directness": "direct", "limitations": "only one case is described, with no comparison group or follow-up data", "followUp": "", "plainFinding": "Rare benign perianal tumor found.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28284459/", "sourceText": "Granular cell tumors originate from Schwann cells of the soft tissues and are rarely observed in the perianal region. Often, correct diagnosis can be challenging owing to nonspecific clinical symptoms and imaging characteristics, as well as its ability to mimic other malignant lesions histologically. We describe the case of a previously healthy 36-year-old woman who presents with a slow growing, painless lump in her perianal region who underwent surgical excision and was found to have a granular cell tumor on microscopic evaluation. This case highlights the importance for radiologists, pathologists, surgeons, and other health care providers to be aware of this rare neoplasm and consider it in the differential diagnosis when encountering perianal masses.", "provenance": [ { "field": "n", "quote": "a previously healthy 36-year-old woman" }, { "field": "population", "quote": "a previously healthy 36-year-old woman who presents with a slow growing, painless lump in her perianal region" }, { "field": "intervention", "quote": "underwent surgical excision" }, { "field": "comparator", "quote": "underwent surgical excision and was found to have a granular cell tumor on microscopic evaluation" }, { "field": "primaryOutcome", "quote": "was found to have a granular cell tumor on microscopic evaluation" }, { "field": "result", "quote": "was found to have a granular cell tumor on microscopic evaluation" } ] }, { "id": "pmid:28081767", "pmid": "28081767", "doi": "10.1016/S0001-7310(17)30006-6", "nctId": null, "pmcid": null, "title": "Hidradenitis suppurativa and perianal Crohn disease: differential diagnosis", "firstAuthor": "Bassas-Vila", "multipleAuthors": true, "journal": "Actas Dermosifiliogr", "year": 2016, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with perianal bumps or sores possibly from Crohn disease or hidradenitis suppurativa", "intervention": "not applicable - this is a review about telling two conditions apart", "comparator": "not applicable", "primaryOutcome": "how to distinguish hidradenitis suppurativa from perianal Crohn disease", "result": "the abstract describes both conditions and says telling them apart can be hard, especially when perianal; it does not report a study result", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a narrative review describing a clinical challenge, not a study testing a treatment, so it can't show whether any treatment works.", "directness": "indirect", "limitations": "no original data, patient numbers, or outcome measures are given; it is a descriptive review, not a controlled study.", "followUp": "", "plainFinding": "Review explaining two possible causes.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/28081767/", "sourceText": "The first description of perianal fistulas and complications in Crohn disease was made 75 years ago by Penner and Crohn. Published studies have subsequently confirmed that perianal fistulas are the most common manifestations of fistulising Crohn disease. Hidradenitis suppurativa was described in 1854 by a French surgeon, Aristide Verneuil. It is a chronic, inflammatory, recurrent and debilitating disease of the pilosebaceous follicle, that usually manifests after puberty with deep, painful and inflamed lesions in the areas of the body with apocrine glands, usually the axillary, inguinal and anogenital regions. The differential diagnosis between hidradenitis suppurativa and Crohn disease can be challenging, especially when the disease is primarily perianal. When they occur simultaneously, hidradenitis suppurativa and Crohn disease show severe phenotypes and patients can respond to anti-tumour necrosis factor therapy, although adalimumab is currently the only treatment with demonstrated efficacy in hidradenitis suppurativa and Crohn disease. In addition, there is sometimes a need for different complementary surgical procedures.", "provenance": [ { "field": "population", "quote": "deep, painful and inflamed lesions in the areas of the body with apocrine glands, usually the axillary, inguinal and anogenital regions" }, { "field": "primaryOutcome", "quote": "The differential diagnosis between hidradenitis suppurativa and Crohn disease can be challenging, especially when the disease is primarily perianal." }, { "field": "result", "quote": "When they occur simultaneously, hidradenitis suppurativa and Crohn disease show severe phenotypes and patients can respond to anti-tumour necrosis factor therapy, although adalimumab is currently the only treatment with demonstrated efficacy in hidradenitis suppurativa and Crohn disease." }, { "field": "intervention", "quote": "adalimumab is currently the only treatment with demonstrated efficacy in hidradenitis suppurativa and Crohn disease" }, { "field": "comparator", "quote": "there is sometimes a need for different complementary surgical procedures" } ] }, { "id": "pmid:27889037", "pmid": "27889037", "doi": "10.1016/j.soc.2016.07.013", "nctId": null, "pmcid": null, "title": "Pathology of Anal Cancer", "firstAuthor": "Hoff", "multipleAuthors": true, "journal": "Surg Oncol Clin N Am", "year": 2017, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal canal cancer or precancerous lesions", "intervention": "not applicable (pathology review)", "comparator": "", "primaryOutcome": "classification and diagnosis of anal cancer types", "result": "describes tumor types, HPV's role, and diagnostic markers but does not test a treatment or report patient outcomes", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a descriptive pathology review, not a study testing an intervention or outcome, so it cannot show benefit or harm", "directness": "indirect", "limitations": "review article summarizing pathology classification; no original patient outcome data, no treatment comparison, no information on prognosis biomarkers", "followUp": "", "plainFinding": "Explains cancer types, not symptoms like a bump", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27889037/", "sourceText": "Anal canal cancer is rather an uncommon disease but its incidence is increasing. Squamous cell carcinoma (SCC) is the most frequent primary anal neoplasm and can encompass a variety of morphologies. HPV infection has a key role in precancerous lesions and cancer development by the production of E6 and E7 oncoproteins. Anal squamous precancerous lesions are now classified according to the same criteria and terminology as their cervical counterparts. The p16 expression by immunohistochemistry is a surrogate marker for human papilloma virus (HPV). Many other tumor types can arise in the anal canal, including adenocarcinomas, neuroendocrine tumors, malignant melanomas, lymphomas and various types of mesenchymal tumors. For differential diagnosis, immunostaining markers such as CK5/6 and p63 can be used to distinguish SCC and CK7 for adenocarcinoma. Other classical panels can also be applied as in other locations. Currently, there are no biomarkers able to predict prognosis or response to treatment in clinical practice.", "provenance": [ { "field": "population", "quote": "Anal canal cancer is rather an uncommon disease but its incidence is increasing." }, { "field": "intervention", "quote": "For differential diagnosis, immunostaining markers such as CK5/6 and p63 can be used to distinguish SCC and CK7 for adenocarcinoma." }, { "field": "result", "quote": "Currently, there are no biomarkers able to predict prognosis or response to treatment in clinical practice." }, { "field": "primaryOutcome", "quote": "Many other tumor types can arise in the anal canal, including adenocarcinomas, neuroendocrine tumors, malignant melanomas, lymphomas and various types of mesenchymal tumors." } ] }, { "id": "pmid:27885389", "pmid": "27885389", "doi": "10.1007/s00261-016-0989-z", "nctId": null, "pmcid": null, "title": "MRI features of perianal fistulas: is there a difference between Crohn's and non-Crohn's patients?", "firstAuthor": "Oliveira", "multipleAuthors": true, "journal": "Abdom Radiol (NY)", "year": 2017, "design": "retrospective", "n": 126, "nField": "reported", "population": "patients with perianal fistulas (a tunnel-like tract near the anus)", "intervention": "having a perianal fistula caused by Crohn's disease", "comparator": "having a perianal fistula not caused by Crohn's disease", "primaryOutcome": "MRI features of the fistula, including type, abscess, and rectal inflammation", "result": "Rectal inflammation was seen more often in Crohn's-related fistulas (29.2%) than in non-Crohn's fistulas (6.7%), while fistula type and abscess rates were similar between groups", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This was a retrospective chart review without randomization or blinding, so it can show patterns but not prove cause and effect.", "directness": "indirect", "limitations": "Retrospective design; excluded patients with prior surgery or unclear findings; only looked at imaging features, not symptoms or causes of a visible bump.", "followUp": "", "plainFinding": "Crohn's fistulas show more rectal inflammation.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27885389/", "sourceText": "PURPOSE: Though perianal fistulas are commonly seen in patients with Crohn's disease, they can also be seen in patients without inflammatory bowel disease. The purpose of this study was to evaluate MR imaging differences of perianal fistulas in patients with and without Crohn's disease. METHODS: Our retrospective search from January 2012 to December 2015 of the Radiology database for perianal fistula yielded 207 patients. Only patients with dedicated MR fistula protocol studies were included, whereas patients with previous anal surgery or anastomosis, anorectal tumors, and equivocal findings that could not be definitely assessed as a fistula were excluded. The following features were assessed: anatomic type of fistula (Parks Classification), luminal origin (hour clock position), anal verge distance, signs of acute inflammation, circumference of anus involved by inflammation, presence of rectal inflammation. and abscess. RESULTS: One hundred and twenty six of 207 patients met inclusion criteria. Of these, 96 (76.2%) had Crohn's disease and 30 (23.8%) did not. The most common fistulas identified were transphincteric (38.5% of Crohn's and 50% of non-Crohn's) and intersphincteric (33.3% of Crohn's and 35.4% of non-Crohn's). An abscess was associated in 41 cases, 32 (33.3%) in the Crohn's group and 9 (30.0%) in the non-Crohn's group. Rectal inflammation was present in 29 patients with Crohn's disease (29.2%) and in 2 without Crohn's (6.7%). This finding was statistically significant (p = 0.0009). CONCLUSIONS: Our study demonstrates that while both groups can have similar MR imaging features, accompanying rectal inflammation was more commonly seen in Crohn's disease.", "provenance": [ { "field": "n", "quote": "One hundred and twenty six of 207 patients met inclusion criteria." }, { "field": "population", "quote": "perianal fistulas are commonly seen in patients with Crohn's disease, they can also be seen in patients without inflammatory bowel disease" }, { "field": "intervention", "quote": "96 (76.2%) had Crohn's disease" }, { "field": "comparator", "quote": "30 (23.8%) did not" }, { "field": "primaryOutcome", "quote": "anatomic type of fistula (Parks Classification), luminal origin (hour clock position), anal verge distance, signs of acute inflammation, circumference of anus involved by inflammation, presence of rectal inflammation. and abscess" }, { "field": "result", "quote": "Rectal inflammation was present in 29 patients with Crohn's disease (29.2%) and in 2 without Crohn's (6.7%). This finding was statistically significant (p = 0.0009)." } ] }, { "id": "pmid:27857005", "pmid": "27857005", "doi": null, "nctId": null, "pmcid": null, "title": "Polypoid anal melanoma. A case report and review of the literature", "firstAuthor": "Tutino", "multipleAuthors": true, "journal": "Ann Ital Chir", "year": 2016, "design": "case-series", "n": 1, "nField": "reported", "population": "55-year-old woman with rectal bleeding, anal pain, and anal mass thought to be a hemorrhoid", "intervention": "surgical removal of the anal mass (transanal excision)", "comparator": "", "primaryOutcome": "diagnosis and nature of the anal mass", "result": "the mass was found to be a rare anal melanoma, not a hemorrhoid, with tumor cells at the edge of the removed tissue", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this is or what treatment works best", "directness": "direct", "limitations": "single case, no long-term outcome reported since patient declined further treatment", "followUp": "", "plainFinding": "Anal bump was rare melanoma, not hemorrhoid", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27857005/", "sourceText": "INTRODUCTION: Ano-rectal melanoma is an uncommon finding in patients complaining of rectal bleeding and/or anal mass often misinterpreted as a haemorroidal pile. CASE REPORT: A 55-years-old woman, complaining of rectal bleeding, frequent anal pain and anal mass suspected for haemorroidal thrombosis was referred for evaluation and possible treatment. A brown polypoid mass arising from the anal canal/lower rectum with a maximum diameter of 6 cm was diagnosed. The hystological examination of the neoplasm, transanally removed, revealed the presence of a polypoid melanoma partially involving the resection margin. Nor metastases nor limph-node involvement were found at the total-body CT scan and at a CT-PET. C-KIT examination was negative. Multidisciplinary evaluation recommended an abdominoperineal resection followed by an adjuvant chemotherapy as the only possible salvage treatment. To date the patient has refused it. DISCUSSION: The delay in the diagnosis of an anal melanoma is well-known, bringing frequently to treat advanced stages of the disease that to date has no clear guidelines for the treatment. KEY WORDS: Ano-rectal melanoma, Mucosal melanoma, Rectal bleeding.", "provenance": [ { "field": "population", "quote": "A 55-years-old woman, complaining of rectal bleeding, frequent anal pain and anal mass suspected for haemorroidal thrombosis was referred for evaluation and possible treatment." }, { "field": "intervention", "quote": "The hystological examination of the neoplasm, transanally removed, revealed the presence of a polypoid melanoma partially involving the resection margin." }, { "field": "primaryOutcome", "quote": "A brown polypoid mass arising from the anal canal/lower rectum with a maximum diameter of 6 cm was diagnosed." }, { "field": "result", "quote": "revealed the presence of a polypoid melanoma partially involving the resection margin" }, { "field": "n", "quote": "A 55-years-old woman" } ] }, { "id": "pmid:27734798", "pmid": "27734798", "doi": "10.11138/gchir/2016.37.3.133", "nctId": null, "pmcid": "PMC5119701", "title": "Rectal bleeding and prolapse… not always benign diseases rather anal cancer. The importance of a correct decision making since primary care", "firstAuthor": "Cocorullo", "multipleAuthors": true, "journal": "G Chir", "year": 2016, "design": "case-series", "n": 1, "nField": "reported", "population": "a 61-year-old woman with rectal bleeding and an anal mass", "intervention": "not applicable - diagnostic case report", "comparator": "not applicable - no comparator", "primaryOutcome": "correct diagnosis of the cause of the anal mass and bleeding", "result": "the mass was misdiagnosed as hemorrhoids at first, but was later found to be anal cancer (squamous carcinoma) on biopsy", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common any cause is or how well any treatment works.", "directness": "direct", "limitations": "only one patient is described, and the abstract is about diagnostic delay rather than testing a treatment or measuring outcomes across patients.", "followUp": "", "plainFinding": "Anal bump was actually cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27734798/", "sourceText": "Rectal bleeding is very common in general population with a prevalence of 10-20 %. Primary care physicians have to stratify patients basing on urgency and on the colo-rectal cancer risk and to conduct a decision making for the correct management. We report a case of a 61-years-old woman, complaining rectal bleeding and an anal mass attended to their family doctor who does a visit but without a digital rectal examination and diagnosed a hemorrhoidal prolapse suggesting medical therapy. For the persistence of symptoms she comes to our service from emergency attention. Inspection and digital rectal examination revealed an anal mass. CT scan was performed showing a large anal mass involving half anal circumference. Histologic samples showed an epithelial proliferation compatible with a squamous carcinoma. Oncological consult was requested and a chemo-radiotherapy treatment was proposed. This case report highlights the difficulty when physicians assess patients with anorectal complaints in differentiating anal cancer from benign disease, presumably because symptoms are similar. Primary care physicians must maintain a high index of suspicion of cancer in high-risk population. Sensitization of these colleagues is required since digital rectal examination is of inestimable value to verify the presence of a rectal or an anal mass.", "provenance": [ { "field": "n", "quote": "a 61-years-old woman" }, { "field": "population", "quote": "a case of a 61-years-old woman, complaining rectal bleeding and an anal mass" }, { "field": "primaryOutcome", "quote": "Inspection and digital rectal examination revealed an anal mass." }, { "field": "result", "quote": "Histologic samples showed an epithelial proliferation compatible with a squamous carcinoma." }, { "field": "intervention", "quote": "family doctor who does a visit but without a digital rectal examination and diagnosed a hemorrhoidal prolapse suggesting medical therapy" }, { "field": "comparator", "quote": "Oncological consult was requested and a chemo-radiotherapy treatment was proposed." } ] }, { "id": "pmid:27733417", "pmid": "27733417", "doi": "10.1136/bcr-2016-215173", "nctId": null, "pmcid": "PMC5073638", "title": "An elusive cause of perianal pain in a patient with Hirschsprung's disease", "firstAuthor": "Perungo", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2016, "design": "case-series", "n": 1, "nField": "reported", "population": "23-year-old woman with Hirschsprung's disease, previously operated as infant, with perianal pain and constipation", "intervention": "surgical excision of presacral lesion via perineal route", "comparator": "none", "primaryOutcome": "identification and removal of cause of perianal pain", "result": "a presacral epidermoid (sebaceous) cyst was found and removed, initially mistaken for a nerve sheath tumour on imaging", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this cause is or how well treatment works in general.", "directness": "direct", "limitations": "Single case, no long-term follow-up reported, rare condition.", "followUp": "", "plainFinding": "Rare cyst caused bump and pain.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27733417/", "sourceText": "A 23-year-old woman presented to the outpatients department with symptoms of acute onset perianal pain of 2 weeks' duration and constipation. She was a known case of Hirschsprung's disease and was operated on in infancy. Rectal examination ruled out acute fissure or perianal sepsis, and subsequent colonoscopy was normal. Because of persistent symptoms, she was evaluated further by imaging which revealed a presacral lesion closely abutting the nerve roots, suggesting the possibility of a nerve sheath tumour. The tumour was excised by the perineal route, and surprisingly the histopathology report revealed an epidermoid (sebaceous) cyst. Presacral tumours are very rare lesions which most colorectal surgeons never come across in their careers. Tumours range from indolent, to benign, to more aggressive malignant lesions. Usually the symptoms are non-specific and surgical excision remains the best treatment. Multidisciplinary team work is needed for most of these cases.", "provenance": [ { "field": "n", "quote": "A 23-year-old woman presented to the outpatients department" }, { "field": "population", "quote": "A 23-year-old woman presented to the outpatients department with symptoms of acute onset perianal pain of 2 weeks' duration and constipation. She was a known case of Hirschsprung's disease and was operated on in infancy." }, { "field": "intervention", "quote": "The tumour was excised by the perineal route" }, { "field": "comparator", "quote": "Presacral tumours are very rare lesions which most colorectal surgeons never come across in their careers." }, { "field": "primaryOutcome", "quote": "subsequent colonoscopy was normal. Because of persistent symptoms, she was evaluated further by imaging" }, { "field": "result", "quote": "the histopathology report revealed an epidermoid (sebaceous) cyst" } ] }, { "id": "pmid:27618320", "pmid": "27618320", "doi": "10.1148/rg.2016150209", "nctId": null, "pmcid": null, "title": "Tumors and Tumorlike Conditions of the Anal Canal and Perianal Region: MR Imaging Findings", "firstAuthor": "Surabhi", "multipleAuthors": true, "journal": "Radiographics", "year": 2016, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with tumors or growths in the anal canal or perianal area", "intervention": "MRI imaging to evaluate the growth", "comparator": "none", "primaryOutcome": "how well MRI findings help identify and characterize the type of tumor", "result": "MRI can help characterize anal and perianal tumors but overlapping features mean a definite diagnosis usually requires a tissue biopsy", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a descriptive review of imaging features, not a study testing an outcome or treatment.", "directness": "indirect", "limitations": "The abstract notes overlap in imaging features among different tumor types, so imaging alone cannot give a definitive diagnosis.", "followUp": "", "plainFinding": "Imaging helps identify tumor type, biopsy needed.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27618320/", "sourceText": "Tumors and tumorlike conditions of the anus and perianal region originate from the anal canal and anal margin or result from direct extension of tumors from adjacent organs. The anatomy of the anal canal is complex, and its different histologic characteristics can lead to diverse pathologic conditions. The anal canal extends from the anorectal junction to the anal verge. The World Health Organization classification of anal canal tumors includes (a) anal intraepithelial neoplasia, the precursor of squamous cell carcinoma (SCC), and (b) invasive tumors. Invasive tumors are further classified on the basis of cell type as epithelial tumors (SCC, adenocarcinoma, mucinous adenocarcinoma, small cell carcinoma, and undifferentiated carcinoma), nonepithelial tumors, carcinoid tumors, melanoma, and secondary tumors (direct spread from rectal, cervical, or prostate carcinoma). The anal margin, or perianal skin, lies outside the anal verge and encompasses a radius of 5 cm from the anal verge. Tumors in the anal margin are classified according to the World Health Organization classification of skin tumors. Anal margin tumors include SCC, anal intraepithelial neoplasia, also known as Bowen disease, adenocarcinoma and its precursor Paget disease, basal cell carcinoma, and verrucous carcinoma (Buschke-Löwenstein tumor), which is a rare variant of SCC. Imaging plays an important role in the evaluation, staging, and follow-up of patients with anal and perianal tumors. However, because of the overlap in imaging features among these diverse entities, a definitive diagnosis is best established at histopathologic examination. Nevertheless, familiarity with the pathogenesis, imaging features, and treatment of these tumors can aid radiologic diagnosis and guide appropriate patient treatment. (©)RSNA, 2016.", "provenance": [ { "field": "population", "quote": "Tumors and tumorlike conditions of the anus and perianal region originate from the anal canal and anal margin or result from direct extension of tumors from adjacent organs." }, { "field": "intervention", "quote": "Imaging plays an important role in the evaluation, staging, and follow-up of patients with anal and perianal tumors." }, { "field": "comparator", "quote": "a definitive diagnosis is best established at histopathologic examination" }, { "field": "primaryOutcome", "quote": "familiarity with the pathogenesis, imaging features, and treatment of these tumors can aid radiologic diagnosis and guide appropriate patient treatment" }, { "field": "result", "quote": "because of the overlap in imaging features among these diverse entities, a definitive diagnosis is best established at histopathologic examination" } ] }, { "id": "pmid:27392764", "pmid": "27392764", "doi": "10.1007/s00104-016-0242-x", "nctId": null, "pmcid": null, "title": "[Anorectal malignant melanoma : Treatment recommendations]", "firstAuthor": "Glowka", "multipleAuthors": true, "journal": "Chirurg", "year": 2016, "design": "narrative-review", "n": 8, "nField": "reported", "population": "patients with anorectal malignant melanoma, a rare cancer that can look like hemorrhoids", "intervention": "surgical removal of the tumor (local excision or more extensive abdominoperineal resection)", "comparator": "different surgical approaches compared to each other, based on tumor size and stage", "primaryOutcome": "survival time and cancer recurrence after surgery", "result": "median survival was 12 months with disease-free survival of 6 months; surgery was the only effective therapy and local excision was enough if margins were clear", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "it's a tiny case series of 8 patients combined with a non-systematic literature review, with no control group to compare against.", "directness": "indirect", "limitations": "Very small number of own patients, no systematic review methodology described, no control group, and no therapy guidelines exist.", "followUp": "", "plainFinding": "Rare anal cancer, surgery main treatment.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27392764/", "sourceText": "BACKGROUND: Anorectal malignant melanoma is a rare tumor with a poor prognosis. Typical symptoms (bleeding, pain, perianal mass) are characteristic of hemorrhoids. This, together with the high rate of amelanotic tumors, often delays diagnosis. No therapy guidelines exist. MATERIALS AND METHODS: Based on our own experience of surgically treated patients and an extensive literature search, we present a stage-dependent therapeutic concept. RESULTS: Eight patients (six women) with a mean age of 65 ± 8 years were treated at our institution. Six underwent abdominoperineal resection; two had local excision. Two patients additionally underwent inguinal lymph node dissection. Median survival was 12 months with a disease-free survival of 6 months. Forty treatment studies with a total of 1,970 cases could be identified. Prognostic factors are age, time to correct diagnosis, tumor extent, tumor stage, and perineural invasion. The impact of lymph node metastases and R0 resection varies. Surgery is the only effective therapy. Local excision is sufficient when free resection margins are achieved. CONCLUSIONS: Locally limited tumors should be resected; if possible using local excision. Larger tumors or tumors with sphincter infiltration often require abdominoperineal resection with curative intent. When regional lymph node metastases are present, we advise regional lymphadenectomy of the affected area. In the case of distant metastases, palliative surgery is needed for metastasectomy and in cases of incontinence or refractory pain.", "provenance": [ { "field": "population", "quote": "Anorectal malignant melanoma is a rare tumor with a poor prognosis." }, { "field": "population", "quote": "Typical symptoms (bleeding, pain, perianal mass) are characteristic of hemorrhoids." }, { "field": "intervention", "quote": "Six underwent abdominoperineal resection; two had local excision." }, { "field": "comparator", "quote": "Local excision is sufficient when free resection margins are achieved." }, { "field": "primaryOutcome", "quote": "Median survival was 12 months with a disease-free survival of 6 months." }, { "field": "result", "quote": "Median survival was 12 months with a disease-free survival of 6 months." }, { "field": "result", "quote": "Surgery is the only effective therapy." }, { "field": "n", "quote": "Eight patients (six women) with a mean age of 65 ± 8 years were treated at our institution." } ] }, { "id": "pmid:27278524", "pmid": "27278524", "doi": "10.1186/s12957-016-0909-2", "nctId": null, "pmcid": "PMC4898473", "title": "Rare occurrence of metastasis from lung cancer to the anus: case report and review of the literature", "firstAuthor": "Al-Tarakji", "multipleAuthors": true, "journal": "World J Surg Oncol", "year": 2016, "design": "case-series", "n": 1, "nField": "reported", "population": "a patient with non-small cell lung cancer", "intervention": "not applicable (case report)", "comparator": "", "primaryOutcome": "diagnosis of perianal/anal mass", "result": "the lung cancer had spread to the anus, appearing like an abscess", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single case report, which cannot show how common or likely a cause this is for people in general", "directness": "indirect", "limitations": "only one patient described; no comparison group; based on a rare, advanced cancer case rather than typical causes of anal bumps", "followUp": "", "plainFinding": "Rare cancer spread mistaken for abscess", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27278524/", "sourceText": "BACKGROUND: Anal metastases from lung cancer are infrequent, and there are only 10 published cases. Life expectancy is no longer than 1 year after diagnosis because of the typically advanced stage of disease. Treatment, which is typically inefficient, is administered with the intent to cure or avoid local complications. CASE PRESENTATION: We report a case of a patient with non-small cell lung cancer presenting with perianal metastasis mimicking an abscess. CONCLUSIONS: Because perianal masses may be misdiagnosed, patients with lung and other cancers should be evaluated for metastatic disease.", "provenance": [ { "field": "population", "quote": "a patient with non-small cell lung cancer presenting with perianal metastasis mimicking an abscess" }, { "field": "intervention", "quote": "We report a case of a patient with non-small cell lung cancer presenting with perianal metastasis mimicking an abscess." }, { "field": "result", "quote": "Because perianal masses may be misdiagnosed, patients with lung and other cancers should be evaluated for metastatic disease." }, { "field": "n", "quote": "We report a case of a patient with non-small cell lung cancer" }, { "field": "primaryOutcome", "quote": "Because perianal masses may be misdiagnosed, patients with lung and other cancers should be evaluated for metastatic disease." } ] }, { "id": "pmid:27133243", "pmid": "27133243", "doi": "10.1016/j.emc.2015.12.013", "nctId": null, "pmcid": null, "title": "Anorectal Complaints in the Emergency Department", "firstAuthor": "Tupe", "multipleAuthors": true, "journal": "Emerg Med Clin North Am", "year": 2016, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "patients presenting to the emergency department with anorectal complaints", "intervention": "", "comparator": "", "primaryOutcome": "recognizing and distinguishing benign from serious anorectal conditions", "result": "the abstract does not report a specific result, just general guidance on diagnosis and management", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a general review discussing diagnosis, not a study testing any treatment or reporting outcomes.", "directness": "indirect", "limitations": "no study design, patient data, or outcomes are reported; it is a general overview for clinicians.", "followUp": "", "plainFinding": "Review discusses causes, not findings.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27133243/", "sourceText": "Patients commonly present to the emergency department with anorectal complaints. Most of these complaints are benign and can be managed conservatively; however, there are a few anorectal emergencies that clinicians must be aware of in order to prevent further complications. The history and physical examination are especially important so that critical disorders can be recognized and specific treatment plans can be determined. It is important to maintain a broad differential diagnosis of anorectal disease and to distinguish benign from serious processes.", "provenance": [ { "field": "population", "quote": "Patients commonly present to the emergency department with anorectal complaints." }, { "field": "primaryOutcome", "quote": "It is important to maintain a broad differential diagnosis of anorectal disease and to distinguish benign from serious processes." }, { "field": "result", "quote": "Most of these complaints are benign and can be managed conservatively; however, there are a few anorectal emergencies that clinicians must be aware of in order to prevent further complications." } ] }, { "id": "pmid:27027745", "pmid": "27027745", "doi": "10.1111/ddg.12986", "nctId": null, "pmcid": null, "title": "Proctology - diseases of the anal region", "firstAuthor": "Kreuter", "multipleAuthors": false, "journal": "J Dtsch Dermatol Ges", "year": 2016, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with perianal region, anal canal, or rectum symptoms", "intervention": "not applicable (review article)", "comparator": "not applicable (review article)", "primaryOutcome": "identifying the diagnosis causing perianal symptoms", "result": "describes an algorithm using five key symptoms to help diagnose anal/perianal conditions", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a narrative review describing disease categories and a diagnostic approach, not a study testing a treatment or reporting outcome data.", "directness": "direct", "limitations": "Abstract does not report any study data, participant numbers, or comparative outcomes; it is a descriptive overview of disease categories and diagnostic symptoms.", "followUp": "", "plainFinding": "Describes causes, not treatment results.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/27027745/", "sourceText": "Proctology is a medical subspecialty that encompasses diseases of the perianal region, anal canal, and rectum. Dermatologists play a pivotal role in this realm, as inflammatory perianal disorders, infectious and sexually transmitted diseases, as well as perianal tumors and their precursor lesions fall within the core competency of dermatology. In a concise manner, the present article highlights all relevant disease groups in the field of proctology. With a particular focus on aspects pertinent to dermatologists, this includes inflammatory disorders, \"classic\" proctologic diseases, sexually transmitted diseases, malignancies of the anal region, as well as pathogen-induced diseases. Despite the wide variety of disorders, there are only five key symptoms prompting patients to consult a proctologist, including anal pruritus and burning, discharge, bleeding, pain, and foreign body sensation. A simple algorithm, which incorporates these symptoms as well as key clinical features, may assist in quickly establishing the correct diagnosis in everyday clinical practice.", "provenance": [ { "field": "population", "quote": "Proctology is a medical subspecialty that encompasses diseases of the perianal region, anal canal, and rectum." }, { "field": "primaryOutcome", "quote": "there are only five key symptoms prompting patients to consult a proctologist, including anal pruritus and burning, discharge, bleeding, pain, and foreign body sensation" }, { "field": "result", "quote": "A simple algorithm, which incorporates these symptoms as well as key clinical features, may assist in quickly establishing the correct diagnosis in everyday clinical practice." }, { "field": "intervention", "quote": "the present article highlights all relevant disease groups in the field of proctology" }, { "field": "comparator", "quote": "Despite the wide variety of disorders, there are only five key symptoms prompting patients to consult a proctologist" } ] }, { "id": "pmid:26937152", "pmid": "26937152", "doi": "10.3748/wjg.v22.i8.2636", "nctId": null, "pmcid": "PMC4768210", "title": "Condyloma acuminatum of the anal canal, treated with endoscopic submucosal dissection", "firstAuthor": "Sasaki", "multipleAuthors": true, "journal": "World J Gastroenterol", "year": 2016, "design": "case-series", "n": 1, "nField": "reported", "population": "28-year-old man with a wart-like growth in the anal canal causing rectal bleeding", "intervention": "endoscopic submucosal dissection (a scope procedure to remove the growth)", "comparator": "standard surgical removal or topical treatment", "primaryOutcome": "whether the growth came back after removal", "result": "no recurrence seen 16 months after the procedure", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show whether this treatment works better than others in general", "directness": "direct", "limitations": "only one patient was studied, so findings may not apply to others", "followUp": "16 mo", "plainFinding": "No recurrence after removal.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26937152/", "sourceText": "Condyloma acuminatum (CA) is a common sexually transmitted disease caused by human papilloma virus infection. Not all individuals develop persistent, progressive disease, but careful follow up is required with moderate-to-severe dysplasia to prevent progression to malignancy. Standard therapies include surgical treatments (trans-anal resection and trans-anal endoscopic microsurgery) and immunotherapeutic and topical methods (topical imiquimod); however, local recurrence remains a considerable problem. Here, we report a case with superficial CA of the anal canal, treated with endoscopic submucosal dissection (ESD). A 28-year-old man presented with a chief complaint of hematochezia. Digital exam did not detect a tumor. Screening colonoscopy revealed 10-mm long, whitish condyles extending from the anal canal to the lower rectum. The lesion covered almost the whole circumference, and only a small amount of normal mucosa remained. Magnifying endoscopy with narrow band imaging showed brownish hairpin-shaped, coiled capillaries. Although histopathological diagnosis by biopsy revealed CA, accurate histological differentiation between CA, papilloma, and squamous cell carcinoma can be difficult with a small specimen. Therefore, we performed diagnostic ESD, which provides a complete specimen for precise histopathological evaluation. The pathological diagnosis was CA, with moderate dysplasia (anal intraepithelial neoplasia 2). There was no recurrence at 16 mo after the initial ESD. Compared to surgical treatment, endoscopic diagnosis and resection could be performed simultaneously and the tumor margin observed clearly with a magnifying chromocolonoscopy, resulting in less recurrence. These findings suggest that endoscopic resection may be an alternative method for CA that prevents recurrence.", "provenance": [ { "field": "population", "quote": "A 28-year-old man presented with a chief complaint of hematochezia." }, { "field": "intervention", "quote": "we performed diagnostic ESD" }, { "field": "comparator", "quote": "Standard therapies include surgical treatments (trans-anal resection and trans-anal endoscopic microsurgery) and immunotherapeutic and topical methods (topical imiquimod)" }, { "field": "primaryOutcome", "quote": "There was no recurrence at 16 mo after the initial ESD." }, { "field": "result", "quote": "There was no recurrence at 16 mo after the initial ESD." }, { "field": "n", "quote": "A 28-year-old man presented with a chief complaint of hematochezia." } ] }, { "id": "pmid:26712260", "pmid": "26712260", "doi": "10.11138/gchir/2015.36.5.222", "nctId": null, "pmcid": "PMC4711979", "title": "A rare case of myeloid sarcoma presenting as anal fissure", "firstAuthor": "Vecchio", "multipleAuthors": true, "journal": "G Chir", "year": 2015, "design": "case-series", "n": null, "nField": "not-reported", "population": "a patient with a history of acute myeloid leukemia who had a painful anal fissure", "intervention": "none (diagnostic surgical excisional biopsy)", "comparator": "", "primaryOutcome": "identifying the cause of the anal fissure", "result": "the fissure was found to be caused by myeloid sarcoma, a rare tumor related to leukemia", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single rare case report, so it cannot show how common this cause is or how it compares to other treatments", "directness": "indirect", "limitations": "only one patient described; no comparison group; specific to a patient with existing leukemia history", "followUp": "", "plainFinding": "Rare leukemia-related tumor causing fissure", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26712260/", "sourceText": "Myeloid sarcoma is a tumor composed of myeloblasts occurring at an extramedullary site. It may develop in patients with acute myeloid leukemia, myeloproliferative or myelodysplastic syndrome, sometimes preceding onset of the systemic disease. Frequent sites of myeloid sarcoma are bones or various soft tissues. Gastrointestinal involvement is very rare. We report a unique case of myeloid sarcoma presenting as a painful anal fissure, in a patient with a history of acute myeloid leukemia. The diagnosis was achieved by a surgical excisional biopsy and immunoistochemical staining.", "provenance": [ { "field": "population", "quote": "We report a unique case of myeloid sarcoma presenting as a painful anal fissure, in a patient with a history of acute myeloid leukemia." }, { "field": "intervention", "quote": "The diagnosis was achieved by a surgical excisional biopsy and immunoistochemical staining." }, { "field": "primaryOutcome", "quote": "We report a unique case of myeloid sarcoma presenting as a painful anal fissure, in a patient with a history of acute myeloid leukemia." }, { "field": "result", "quote": "We report a unique case of myeloid sarcoma presenting as a painful anal fissure, in a patient with a history of acute myeloid leukemia." }, { "field": "n", "quote": "We report a unique case" } ] }, { "id": "pmid:26551619", "pmid": "26551619", "doi": "10.1097/PAS.0000000000000549", "nctId": null, "pmcid": null, "title": "Papillary Immature Metaplasia of the Anal Canal: A Low-grade Lesion That Can Mimic a High-grade Lesion", "firstAuthor": "Roberts", "multipleAuthors": true, "journal": "Am J Surg Pathol", "year": 2016, "design": "case-series", "n": 15, "nField": "reported", "population": "homosexual men being studied for anal HPV infection", "intervention": "identification of papillary immature metaplasia (PIM) lesions in anal biopsy samples", "comparator": "conventional low-grade squamous intraepithelial lesion (eLSIL/condyloma)", "primaryOutcome": "characteristics and HPV type of the PIM lesion, including p16 status", "result": "PIM was a low-grade lesion that looked immature under the microscope, tested negative for p16, and contained a single low-risk HPV type (6 or 11), but could be mistaken for a high-grade lesion", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a small descriptive case series of only 15 biopsy samples with no comparison group or outcome tracking, so it cannot show whether any treatment works.", "directness": "indirect", "limitations": "Abstract does not report long-term follow-up or clinical outcomes; study only describes microscopic and HPV features, with a note that 'further study of the natural history of anal canal PIM is needed.'", "followUp": "", "plainFinding": "Harmless lesion that can look dangerous.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26551619/", "sourceText": "In a natural history study of anal human papillomavirus (HPV) infection and HPV-related lesions among homosexual men in Sydney, Australia, we identified 15 examples of papillary immature metaplasia (PIM) in anal biopsy samples. PIM has previously been described in the cervix, but not in the anal canal. PIM is a form of exophytic low-grade squamous intraepithelial lesion (eLSIL) also known as condyloma. In contrast to the maturing keratinocytes and koilocytosis seen in conventional eLSIL, the slender papillary structures of PIM have a surface population of immature squamous cells. In our anal samples PIM was characterized by close proximity to conventional eLSIL, was negative for p16 (p16) expression, and revealed the presence of a single low-risk HPV genotype (either 6 or 11) in laser capture microdissected lesions. The clinical significance of recognizing PIM lies in preventing misdiagnosis as high-grade squamous intraepithelial lesion, (the presumed precursor to anal cancer), due to the morphologic immaturity of the cell population. In routine practice, awareness of anal canal PIM and p16 immunostaining will prevent this. Further study of the natural history of anal canal PIM is needed.", "provenance": [ { "field": "n", "quote": "we identified 15 examples of papillary immature metaplasia (PIM) in anal biopsy samples" }, { "field": "population", "quote": "a natural history study of anal human papillomavirus (HPV) infection and HPV-related lesions among homosexual men in Sydney, Australia" }, { "field": "intervention", "quote": "we identified 15 examples of papillary immature metaplasia (PIM) in anal biopsy samples" }, { "field": "comparator", "quote": "PIM is a form of exophytic low-grade squamous intraepithelial lesion (eLSIL) also known as condyloma" }, { "field": "primaryOutcome", "quote": "PIM was characterized by close proximity to conventional eLSIL, was negative for p16 (p16) expression, and revealed the presence of a single low-risk HPV genotype (either 6 or 11) in laser capture microdissected lesions" }, { "field": "result", "quote": "The clinical significance of recognizing PIM lies in preventing misdiagnosis as high-grade squamous intraepithelial lesion, (the presumed precursor to anal cancer), due to the morphologic immaturity of the cell population." } ] }, { "id": "pmid:26374663", "pmid": "26374663", "doi": "10.1093/ecco-jcc/jjv164", "nctId": null, "pmcid": null, "title": "Clinical Features of Tuberculous Versus Crohn's Anal Fistulas, in Korea", "firstAuthor": "Choi", "multipleAuthors": true, "journal": "J Crohns Colitis", "year": 2015, "design": "retrospective", "n": 203, "nField": "reported", "population": "patients who had surgery for anal fistulas", "intervention": "tuberculous anal fistula", "comparator": "Crohn's disease anal fistula", "primaryOutcome": "clinical, pathological, and colonoscopic features distinguishing TB from Crohn's anal fistula", "result": "TB fistula patients were older and had more chronic illness, pulmonary TB signs, and fewer colon mucosal lesions than Crohn's fistula patients", "resultDirection": "mixed", "quality": "low", "qualityWhy": "This is a retrospective comparison of two conditions without a control or treatment, so it only describes differences, not what helps.", "directness": "indirect", "limitations": "Retrospective design; no information on treatment outcomes; findings specific to a TB-endemic country.", "followUp": "", "plainFinding": "TB and Crohn's fistulas look similar but differ.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26374663/", "sourceText": "BACKGROUND AND AIMS: In Western countries, tuberculous anal fistula may not be an issue because tuberculosis [TB] is not common, and this is a very rare form of extrapulmonary manifestation of TB. However in TB-endemic countries, careful diagnostic differentiation is required because the clinical features of TB anal fistula and Crohn's disease [CD] anal fistula are similar, with distinguishing features remaining unclear. We aimed to analyse the clinical features of TB versus CD anal fistulas. METHOD: Among 13872 patients who underwent anal fistula surgery from 2003 to 2014, 87 patients with TB fistulas and 116 patients with CD fistulas were included. Data on the annual incidence of TB and CD, as well as the clinical, pathological, ultrasonographic, colonoscopic and surgical data were analysed. RESULTS: Compared with CD, the TB group was older [median: 37 vs 22 years] and underlying chronic illness was more common [20.3% vs 2.6%]. In the TB group, 46 patients [59.7%] showed active or inactive pulmonary TB, and acid-fast bacilli and caseating granuloma were found in 56.3% and 62.1%, respectively. During colonoscopy, mucosal lesions were observed more frequently in CD [96.9% vs 16.9%]. CONCLUSIONS: TB anal fistula is clinically very similar to CD anal fistula. In Korea, the incidence of CD anal fistula has recently increased in prevalence, whereas the prevalence of TB anal fistula is decreasing but is still persistent. We recommend that clinicians should prepare for a possibility of TB as well as CD anal fistula in TB-endemic countries including Korea.", "provenance": [ { "field": "population", "quote": "13872 patients who underwent anal fistula surgery from 2003 to 2014, 87 patients with TB fistulas and 116 patients with CD fistulas were included" }, { "field": "intervention", "quote": "TB anal fistula" }, { "field": "comparator", "quote": "Crohn's disease [CD] anal fistula" }, { "field": "primaryOutcome", "quote": "clinical, pathological, ultrasonographic, colonoscopic and surgical data were analysed" }, { "field": "result", "quote": "the TB group was older [median: 37 vs 22 years] and underlying chronic illness was more common [20.3% vs 2.6%]" }, { "field": "result", "quote": "mucosal lesions were observed more frequently in CD [96.9% vs 16.9%]" }, { "field": "n", "quote": "87 patients with TB fistulas and 116 patients with CD fistulas were included" } ] }, { "id": "pmid:26332535", "pmid": "26332535", "doi": "10.1097/DAD.0000000000000419", "nctId": null, "pmcid": null, "title": "Incidental Melanocytic Nevi in Hemorrhoidectomy Specimens", "firstAuthor": "Val-Bernal", "multipleAuthors": true, "journal": "Am J Dermatopathol", "year": 2016, "design": "retrospective", "n": 1918, "nField": "reported", "population": "adults who had surgery to remove hemorrhoids", "intervention": "routine microscopic examination of removed hemorrhoid tissue", "comparator": "none", "primaryOutcome": "how often benign moles (melanocytic nevi) are found incidentally in hemorrhoid tissue", "result": "benign moles were found in 4 out of 1918 patients (about 1 in 480 specimens), all benign with no signs of cancer", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a retrospective review of pathology specimens from one center, not a treatment study, so it only shows how often a finding occurs rather than comparing outcomes.", "directness": "indirect", "limitations": "retrospective, single-institution review of surgical specimens; does not address why a lump might form in the first place, only an incidental finding during pathology review.", "followUp": "", "plainFinding": "Rare benign mole found in hemorrhoid tissue.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26332535/", "sourceText": "BACKGROUND: Benign melanocytic nevi (MN) of the anal canal are exceptional and require adequate differential diagnosis. There are no data on incidence of these lesions. Only a single case report of hemorrhoid with an MN has been reported. The necessity of routine pathologic evaluation of hemorrhoidectomy specimens has been questioned. MATERIAL AND METHODS: The authors undertook a retrospective histologic study of the hemorrhoidal tissue obtained in a series of 1918 consecutive hemorrhoidectomies performed between January 2004 and November 2012. RESULTS: Incidental hemorrhoidal MN were detected in 4 (0.21%) patients. The ratio observed was 1 nevus in 480 specimens. Lesions were intradermal or purely junctional in nature. There were no mitoses or architectural disorder. An intradermal nevus showed localized pagetoid melanocytes. The mean age of the patients was 56.5 years (range 47-73 years). The mean size of nevi was 5.86 mm (range 1.89-13.86 mm). All cases were present in external hemorrhoids. CONCLUSIONS: Although uncommonly, incidental MN can be observed in hemorrhoidal tissue. They may show features of flexural nevi and pagetoid melanocytes. Routine histopathological study of hemorrhoidectomy specimens would help to detect benign or malignant melanocytic tumors of the anal canal as these neoplasms can be easily missed clinically. Furthermore, this practice would allow early diagnosis of significant associated processes.", "provenance": [ { "field": "n", "quote": "a series of 1918 consecutive hemorrhoidectomies performed between January 2004 and November 2012" }, { "field": "population", "quote": "hemorrhoidal tissue obtained in a series of 1918 consecutive hemorrhoidectomies" }, { "field": "intervention", "quote": "retrospective histologic study of the hemorrhoidal tissue" }, { "field": "comparator", "quote": "RESULTS: Incidental hemorrhoidal MN were detected in 4 (0.21%) patients." }, { "field": "primaryOutcome", "quote": "There are no data on incidence of these lesions." }, { "field": "result", "quote": "Incidental hemorrhoidal MN were detected in 4 (0.21%) patients. The ratio observed was 1 nevus in 480 specimens." } ] }, { "id": "pmid:26317454", "pmid": "26317454", "doi": "10.5858/arpa.2014-0487-OA", "nctId": null, "pmcid": null, "title": "Primary Anal Canal Syphilis in Men: The Clinicopathologic Spectrum of an Easily Overlooked Diagnosis", "firstAuthor": "Gopal", "multipleAuthors": true, "journal": "Arch Pathol Lab Med", "year": 2015, "design": "case-series", "n": 4, "nField": "reported", "population": "men with anal canal ulcers or masses, some HIV positive", "intervention": "pathologic review including tissue staining for syphilis bacteria", "comparator": "none", "primaryOutcome": "identifying syphilis as the cause of anal ulcers or mass", "result": "all 4 cases showed characteristic inflammation pattern and syphilis bacteria confirmed by special staining, often missed clinically", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a tiny case series of only 4 patients with no comparison group, so it cannot show whether any treatment works, only that syphilis can cause anal ulcers or masses and be missed.", "directness": "direct", "limitations": "only 4 cases, no control group, descriptive pathology study not a treatment trial", "followUp": "", "plainFinding": "Anal bump or ulcer can be syphilis.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/26317454/", "sourceText": "CONTEXT: The incidence of syphilis is on the rise, particularly in male patients who are human immunodeficiency virus (HIV) positive, and men who have sex with men. OBJECTIVE: To describe 4 cases of primary syphilis presenting in the anal canal to increase awareness of its presentation and morphology in this location, as the diagnosis can be easily overlooked clinically and by the pathologist. Design .- Clinical presentation, hematoxylin-eosin-stained sections, and Treponema pallidum immunohistochemical staining were reviewed in detail in all 4 cases. RESULTS: Three patients presented with anal canal ulcers; one presented with an ulcerated anal mass. All 4 patients were male, of whom 2 were HIV positive. Syphilis was clinically suspected in only 1 case; in 2 cases, confirmatory evaluation and treatment were prompted by pathologic diagnosis. In the fourth case, syphilis was diagnosed serologically at time of biopsy; however, the patient had an anal mass, and malignancy was clinically suspected. All 4 cases had bandlike chronic plasma cell-rich inflammation at the squamous epithelium and lamina propria junction; 2 cases had poorly formed granulomas. One case had concomitant rectal biopsy specimens with proctitis. Treponema pallidum immunohistochemistry highlighted homing of organisms in a perivascular pattern and at the junction of squamous epithelium and lamina propria. CONCLUSIONS: Syphilis should be considered in the differential diagnosis of anal canal ulcers, anorectal inflammatory masses, and proctitis. Detailed knowledge of clinical history and recognition of the characteristic pattern of inflammation by the pathologist is important. Treponema pallidum immunohistochemical staining can help avoid a missed diagnosis of syphilis, which, if left unrecognized, can progress to late-stage disease with serious complications.", "provenance": [ { "field": "n", "quote": "To describe 4 cases of primary syphilis presenting in the anal canal" }, { "field": "population", "quote": "All 4 patients were male, of whom 2 were HIV positive." }, { "field": "intervention", "quote": "Clinical presentation, hematoxylin-eosin-stained sections, and Treponema pallidum immunohistochemical staining were reviewed in detail in all 4 cases." }, { "field": "comparator", "quote": "CONTEXT: The incidence of syphilis is on the rise" }, { "field": "primaryOutcome", "quote": "Syphilis was clinically suspected in only 1 case; in 2 cases, confirmatory evaluation and treatment were prompted by pathologic diagnosis." }, { "field": "result", "quote": "All 4 cases had bandlike chronic plasma cell-rich inflammation at the squamous epithelium and lamina propria junction" }, { "field": "result", "quote": "Treponema pallidum immunohistochemistry highlighted homing of organisms in a perivascular pattern and at the junction of squamous epithelium and lamina propria." } ] }, { "id": "pmid:25969499", "pmid": "25969499", "doi": "10.1136/bcr-2015-209832", "nctId": null, "pmcid": "PMC4434259", "title": "A perianal presentation of myeloid sarcoma", "firstAuthor": "Nagra", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2015, "design": "case-series", "n": 1, "nField": "reported", "population": "a 51-year-old man with a perianal lump initially treated for haemorrhoids and abscess", "intervention": "biopsy and histological examination of the perianal lesion", "comparator": "", "primaryOutcome": "underlying cause of the perianal lump", "result": "the lump was found to be myeloid sarcoma linked to a blood cancer (CMML transforming to AML), not haemorrhoids or an abscess", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this cause is or how reliable the finding is for others.", "directness": "direct", "limitations": "Findings come from only one patient, so they may not apply to most people with a similar bump.", "followUp": "", "plainFinding": "Rare blood cancer mimicking hemorrhoids.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25969499/", "sourceText": "Myeloid sarcoma is a rare tumour associated with acute myeloid leucaemia (AML). Infrequently, it can occur in myelodysplastic/myeloproliferative overlap syndrome conditions such as chronic monomyelocytic leucaemia (CMML), where it often heralds the transformation towards an AML. We discuss a rare presentation of myeloid sarcoma in the perianal region of a 51-year-old man, who was seen by various clinicians and treated for haemorrhoids and perianal abscess. There were no gross abnormalities in initial haematological investigations and the patient was systemically well. A histological biopsy demonstrated myeloid sarcoma and bone marrow aspirate, and trephine confirmed CMML transforming to AML. Treatment of myeloid sarcoma is dependent on whether there is associated AML in the bone marrow. Dual chemotherapy with cytarabine and daunorubicin remains the gold standard treatment in these patients. Sending histology samples of atypical lesions when performing incision and drainage procedures is extremely important, as it contributes to early detection of rare and malignant tissue diagnoses.", "provenance": [ { "field": "population", "quote": "a rare presentation of myeloid sarcoma in the perianal region of a 51-year-old man, who was seen by various clinicians and treated for haemorrhoids and perianal abscess" }, { "field": "intervention", "quote": "A histological biopsy demonstrated myeloid sarcoma" }, { "field": "primaryOutcome", "quote": "A histological biopsy demonstrated myeloid sarcoma and bone marrow aspirate, and trephine confirmed CMML transforming to AML." }, { "field": "result", "quote": "A histological biopsy demonstrated myeloid sarcoma and bone marrow aspirate, and trephine confirmed CMML transforming to AML." }, { "field": "n", "quote": "a 51-year-old man" } ] }, { "id": "pmid:25898890", "pmid": "25898890", "doi": "10.1007/s00105-015-3627-8", "nctId": null, "pmcid": null, "title": "[Sexually transmitted infections of the anorectal region]", "firstAuthor": "Spornraft-Ragaller", "multipleAuthors": true, "journal": "Hautarzt", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with sexually transmitted infections affecting the anal/rectal area, including men who have sex with men and heterosexuals practicing anal intercourse", "intervention": "not applicable (review of diagnosis and clinical features)", "comparator": "", "primaryOutcome": "clinical appearance, diagnosis and treatment of anorectal STIs", "result": "Anorectal STIs often cause lumps, ulcers, or proctitis and can be mistaken for cancer or bowel disease; different infections have different typical patterns", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a narrative review describing clinical patterns rather than testing a treatment, so it cannot show whether any intervention works.", "directness": "direct", "limitations": "No original data, sample size, or outcome statistics are given; abstract does not report study methodology.", "followUp": "", "plainFinding": "Bumps can be an STI sign", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25898890/", "sourceText": "BACKGROUND: Sexually transmitted infections (STIs) are increasingly observed in men who have sex with men (MSM), which is associated with the success in the antiretroviral treatment of HIV infection. Additionally, in heterosexuals, anal intercourse is more prevalent than previously assumed. Thus, anorectal manifestations of STIs are not a rare condition. OBJECTIVES: This review will focus on the clinical picture, diagnosis and therapy of frequent STIs involving the anorectal region. CONCLUSIONS: Due to localisation and frequent asymptomatic course, STIs in this region often pose diagnostic problems. Anorectal manifestations of STIs consist of tumorous masses, ulcers or proctitis and may be misdiagnosed as malignancy or inflammatory bowel disease. Herpes simplex and syphilis primarily show ulcerations and may involve the perianal region, whereas gonorrhoea and lymphogranuloma venereum mainly cause proctitic symptoms with exsudation. Because of commonly occurring coinfections a complete diagnostic workup concerning other STIs should be performed.", "provenance": [ { "field": "population", "quote": "Sexually transmitted infections (STIs) are increasingly observed in men who have sex with men (MSM)" }, { "field": "intervention", "quote": "This review will focus on the clinical picture, diagnosis and therapy of frequent STIs involving the anorectal region." }, { "field": "result", "quote": "Anorectal manifestations of STIs consist of tumorous masses, ulcers or proctitis and may be misdiagnosed as malignancy or inflammatory bowel disease." }, { "field": "result", "quote": "Herpes simplex and syphilis primarily show ulcerations and may involve the perianal region, whereas gonorrhoea and lymphogranuloma venereum mainly cause proctitic symptoms with exsudation." }, { "field": "primaryOutcome", "quote": "clinical picture, diagnosis and therapy of frequent STIs involving the anorectal region" } ] }, { "id": "pmid:25891807", "pmid": "25891807", "doi": "10.3238/arztebl.2015.0243", "nctId": null, "pmcid": "PMC4413245", "title": "The differential diagnosis and interdisciplinary treatment of anal carcinoma", "firstAuthor": "Raptis", "multipleAuthors": true, "journal": "Dtsch Arztebl Int", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal cancer", "intervention": "combined radiation and chemotherapy (5-fluorouracil and mitomycin C)", "comparator": "surgery alone", "primaryOutcome": "survival and cure of anal cancer", "result": "5-year survival of 80-90% with combined radiochemotherapy as the preferred treatment", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a narrative review of guidelines and literature, not a study testing a treatment against a comparison group.", "directness": "indirect", "limitations": "The abstract does not describe study methodology, sample size, or how evidence was selected or weighed; it is a selective literature review.", "followUp": "", "plainFinding": "A bump could be anal cancer, needs checking", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25891807/", "sourceText": "BACKGROUND: Anal carcinoma accounts for 2-4% of all cases of colorectal and anorectal carcinoma. Its peak incidence is from age 58 to age 64; women are affected somewhat more commonly than men. Its incidence has risen markedly in the past three decades. METHODS: This article is based on a selective review of the literature, including the guidelines of the National Comprehensive Cancer Network and the European Society of Medical Oncology. RESULTS: Anal carcinoma is often an incidental finding. About 85% of newly diagnosed cases are associated with an HPV infection with strain 16, 18, or 33. Radiochemotherapy with 5-fluorouracil and mitomycin C is the treatment of choice. The 5-year survival rate is 80-90%. Primary surgery with curative intent is indicated only for well-differentiated carcinoma of the anal margin (T1, N0). 10-30% of patients now undergo radical resection. The utility of endosonography and positron emission tomography for staging is debated and needs further study. CONCLUSION: The treatment of patients with anal carcinoma requires a specialized multidisciplinary approach in accordance with the current evidence-based guidelines. The potential role of prophylactic vaccination against oncogenic types of HPV in the prevention of anal carcinoma merits further investigation.", "provenance": [ { "field": "population", "quote": "Anal carcinoma accounts for 2-4% of all cases of colorectal and anorectal carcinoma." }, { "field": "intervention", "quote": "Radiochemotherapy with 5-fluorouracil and mitomycin C is the treatment of choice." }, { "field": "comparator", "quote": "Primary surgery with curative intent is indicated only for well-differentiated carcinoma of the anal margin (T1, N0)." }, { "field": "primaryOutcome", "quote": "The 5-year survival rate is 80-90%." }, { "field": "result", "quote": "The 5-year survival rate is 80-90%." } ] }, { "id": "pmid:25882145", "pmid": "25882145", "doi": "10.1016/j.jflm.2015.02.008", "nctId": null, "pmcid": null, "title": "Anal lesions presenting in a cohort of child gastroenterological examinations. Implications for sexual traumatic injuries", "firstAuthor": "Rougé-Maillart", "multipleAuthors": true, "journal": "J Forensic Leg Med", "year": 2015, "design": "prospective-cohort", "n": 100, "nField": "reported", "population": "children under 15 years old seeing a doctor for digestive symptoms like constipation", "intervention": "gastroenterology exam looking for anal lesions", "comparator": "none", "primaryOutcome": "type and location of anal lesions found during exam", "result": "most lesions were anal fissures and skin tags located at the median line, linked to constipation, not abuse signs", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a descriptive study without a comparison group, so it only describes findings rather than testing a treatment", "directness": "indirect", "limitations": "abstract does not mention blinding, control group, or statistical testing", "followUp": "", "plainFinding": "Anal bumps often just from constipation", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25882145/", "sourceText": "The purpose of this study was to describe the anal lesions found in children during a pediatric gastroenterology consultation when the reason for the complaint was related to a digestive disease. This prospective descriptive study included 100 children under 15 years of age over a 13-month period, consulting due to digestive symptoms. The children were under 8 years old (90%) and 25% were under 3.1 years old. Constipation was the most frequent reason for consultation (69%). Fifty-one anal lesions were observed, of which 58.8% were anal fissures, 15.7% were skin tags and 5.8% were venous congestions related to straining. Anal fissures and skin tags were located at the median line, according to the clock-face method in supine position. No child had more than two anal lesions. No anal dilatation, sphincter hypotonia, anal scars, anal lacerations or bruises were found. The two most common anal lesions were anal fissures and skin tags. These anal lesions were mainly observed at the median line and were due to constipation. No cases of multiple anal lesions were found in terms of common digestive diseases.", "provenance": [ { "field": "n", "quote": "This prospective descriptive study included 100 children under 15 years of age" }, { "field": "population", "quote": "consulting due to digestive symptoms" }, { "field": "intervention", "quote": "pediatric gastroenterology consultation when the reason for the complaint was related to a digestive disease" }, { "field": "comparator", "quote": "This prospective descriptive study included 100 children under 15 years of age over a 13-month period, consulting due to digestive symptoms." }, { "field": "primaryOutcome", "quote": "Fifty-one anal lesions were observed, of which 58.8% were anal fissures, 15.7% were skin tags and 5.8% were venous congestions related to straining." }, { "field": "result", "quote": "The two most common anal lesions were anal fissures and skin tags. These anal lesions were mainly observed at the median line and were due to constipation." } ] }, { "id": "pmid:25874442", "pmid": "25874442", "doi": "10.1007/s00105-015-3618-9", "nctId": null, "pmcid": null, "title": "[Differential diagnosis of anal eczema]", "firstAuthor": "Dietrich", "multipleAuthors": true, "journal": "Hautarzt", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with skin problems around the anus", "intervention": "", "comparator": "", "primaryOutcome": "how to correctly identify the cause of anal skin problems", "result": "the review describes common symptoms and recommends careful history-taking, examination, and biopsy when diagnosis is uncertain", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a narrative review describing diagnostic approach, not a study testing a treatment or reporting outcomes.", "directness": "indirect", "limitations": "abstract does not describe a study with patients, interventions, or measured outcomes - it is a diagnostic guidance review.", "followUp": "", "plainFinding": "Review on diagnosing anal skin problems.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25874442/", "sourceText": "Dermatologic disorders often show involvement of the (peri)anal skin. However, diagnosis of (peri)anal dermatoses is often difficult even for experienced dermatologists due to delayed clinical presentation or prior treatment with over-the-counter medications. The distinct anatomical conditions of the (peri)anal region results in atypical clinical presentation of common dermatoses. Typical symptoms include pruritus, burning, bleeding and pain. Careful history of symptoms, stool, hygiene, sexual practice as well as thorough inspection of the entire body and proctological examination are crucial to make the correct diagnosis. In case of atypical presentation or uncertainty a biopsy needs to be obtained to ensure correct diagnosis and treatment.", "provenance": [ { "field": "population", "quote": "Dermatologic disorders often show involvement of the (peri)anal skin." }, { "field": "result", "quote": "In case of atypical presentation or uncertainty a biopsy needs to be obtained to ensure correct diagnosis and treatment." }, { "field": "primaryOutcome", "quote": "Careful history of symptoms, stool, hygiene, sexual practice as well as thorough inspection of the entire body and proctological examination are crucial to make the correct diagnosis." } ] }, { "id": "pmid:25862555", "pmid": "25862555", "doi": "10.1053/j.semdp.2015.02.015", "nctId": null, "pmcid": null, "title": "Immunohistochemistry and in situ hybridization for the diagnosis and classification of squamous lesions of the anogenital region", "firstAuthor": "Pirog", "multipleAuthors": false, "journal": "Semin Diagn Pathol", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with abnormal-looking anogenital skin lesions being evaluated by a pathologist", "intervention": "special stains (immunohistochemistry/in situ hybridization markers like Ki-67, p16, ProEx C) to test tissue samples", "comparator": "standard microscopic examination alone", "primaryOutcome": "accuracy in telling apart HPV-related precancerous lesions from benign look-alike bumps", "result": "certain stains (Ki-67, p16, ProEx C) help accurately confirm or rule out precancerous HPV-related lesions versus benign mimics", "resultDirection": "benefit", "quality": "low", "qualityWhy": "this is a review article discussing diagnostic markers, not a study that counted patient outcomes or measured accuracy with numbers.", "directness": "indirect", "limitations": "this is a review summarizing lab techniques for pathologists, not a patient study; it doesn't address why someone develops a bump or how common any cause is", "followUp": "", "plainFinding": "Lab stains help diagnose abnormal cells correctly", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25862555/", "sourceText": "Distinguishing anogenital squamous intraepithelial lesions from benign conditions and mimics may be problematic. Immunohistochemistry for surrogate markers of HPV infection, such as Ki-67, p16, and ProEx™ C, may aid the diagnosis in equivocal cases. The main diagnostic pitfall in the diagnosis of LSIL is the occurrence of \"pseudokoilocytes\" in benign squamous mucosa, which may lead to overdiagnosis. When interpreted correctly, Ki-67 is a sensitive and specific marker for dysplasia in mature squamous epithelium and is therefore useful for confirmation of LSIL and condyloma. A Ki-67 positive result is defined as the presence of a cluster of at least two strongly stained epithelial nuclei in the upper two-thirds of the epithelial thickness. With such a definition, there is almost complete concordance between consensus diagnosis of LSIL/condyloma confirmed by detection of HPV DNA and positive Ki-67. A related proliferation marker, ProEx™ C, has similar staining patterns and utility for the diagnosis of low grade dysplasia. The differential diagnosis of HSIL includes atypical immature squamous metaplasia and atrophy. A marker with high sensitivity and specificity for the detection of HSIL in cervical, vulvar, and anal mucosa is p16. A 2-tier scoring system is used to evaluate p16 staining. No staining or a discontinuous, patchy nuclear and cytoplasmic staining pattern is considered as a negative result. A positive result is defined as diffuse and strong staining of cells of the basal and parabasal layers of the squamous epithelium, with or without staining of superficial cell layers. New markers that are undergoing evaluation for their clinical utility include stathmin-1, phosphorylated S6, and SOX2. Confirmation of the diagnosis of dysplasia by HPV detection in tissue sections using HPV capsid protein immunohistochemistry, HPV DNA or HPV RNA in situ hybridization offers lower sensitivity as compared to immunohistochemistry for surrogate markers and therefore has more limited utility in this context.", "provenance": [ { "field": "population", "quote": "Distinguishing anogenital squamous intraepithelial lesions from benign conditions and mimics may be problematic." }, { "field": "intervention", "quote": "Immunohistochemistry for surrogate markers of HPV infection, such as Ki-67, p16, and ProEx™ C, may aid the diagnosis in equivocal cases." }, { "field": "comparator", "quote": "Confirmation of the diagnosis of dysplasia by HPV detection in tissue sections using HPV capsid protein immunohistochemistry, HPV DNA or HPV RNA in situ hybridization offers lower sensitivity as compared to immunohistochemistry for surrogate markers" }, { "field": "primaryOutcome", "quote": "A marker with high sensitivity and specificity for the detection of HSIL in cervical, vulvar, and anal mucosa is p16." }, { "field": "result", "quote": "When interpreted correctly, Ki-67 is a sensitive and specific marker for dysplasia in mature squamous epithelium and is therefore useful for confirmation of LSIL and condyloma." } ] }, { "id": "pmid:25862524", "pmid": "25862524", "doi": "10.1007/s00105-015-3617-x", "nctId": null, "pmcid": null, "title": "[Frequent proctologic findings from a surgeon's viewpoint]", "firstAuthor": "Grundei", "multipleAuthors": false, "journal": "Hautarzt", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal complaints", "intervention": "not applicable (review of diagnosis of anal conditions)", "comparator": "", "primaryOutcome": "identifying the cause of anal symptoms, ranked by how common they are", "result": "the abstract does not give a specific result; it is an overview ranking anal diseases by frequency and describing symptoms associated with hemorrhoids", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a general review summarizing clinical experience rather than presenting study data or testing a treatment.", "directness": "indirect", "limitations": "abstract gives no study design, numbers, or outcome data; it is a general clinical overview, not original research.", "followUp": "", "plainFinding": "Overview of causes of anal bumps.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25862524/", "sourceText": "Patients with anal complaints require a high level of sensitivity of the involved healthcare professionals. A large variety of different pathological changes lead to very similar clinical symptoms. A carefully guided history interview is able to target in many cases the underlying condition. Treatment should not be performed before definite exclusion of any malignant disease. However, patients most of all blame hemorrhoids for any anal physical discomfort and visit the physician with high expectations in treatment of their supposed disease. The following summary ranks anal diseases by frequency considering their clinical appearance and delimitation and provides an overview of symptoms associated with hemorrhoids.", "provenance": [ { "field": "population", "quote": "Patients with anal complaints require a high level of sensitivity of the involved healthcare professionals." }, { "field": "result", "quote": "The following summary ranks anal diseases by frequency considering their clinical appearance and delimitation and provides an overview of symptoms associated with hemorrhoids." }, { "field": "primaryOutcome", "quote": "The following summary ranks anal diseases by frequency considering their clinical appearance and delimitation" }, { "field": "intervention", "quote": "A carefully guided history interview is able to target in many cases the underlying condition." } ] }, { "id": "pmid:25783328", "pmid": "25783328", "doi": "10.1016/j.jpedsurg.2014.09.074", "nctId": null, "pmcid": null, "title": "Bowel function and lower urinary tract symptoms in females with anterior anus treated conservatively: Controlled outcomes into adulthood", "firstAuthor": "Kyrklund", "multipleAuthors": true, "journal": "J Pediatr Surg", "year": 2015, "design": "case-control", "n": 45, "nField": "reported", "population": "females born with anterior anus (abnormally positioned anus) treated without surgery", "intervention": "conservative (non-surgical) management of anterior anus", "comparator": "age- and gender-matched peers without the condition", "primaryOutcome": "bowel control, constipation, and urinary symptoms later in life", "result": "overall bowel control was similar to peers, but constipation was more common in patients; urinary symptoms and toilet-training age were similar to peers", "resultDirection": "mixed", "quality": "low", "qualityWhy": "this is a small, single-center survey study relying on questionnaires, not a controlled trial, so it can't prove cause and effect.", "directness": "indirect", "limitations": "cross-sectional postal questionnaire, single institution, response rate 67%, no information on what causes a 'bump' near the anus in general.", "followUp": "", "plainFinding": "Mostly normal bowel function, more constipation.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25783328/", "sourceText": "PURPOSE: Anterior anus (AA) is a low type of anorectal malformation that is seen exclusively in females, characterized by an essentially normal appearing anus in an abnormally anterior position. In AA, the anal canal is located mostly within the voluntary sphincter complex, differentiating it from a perineal fistula in females, and allowing for a nonoperative approach to management. This study aimed to characterize the controlled, long-term bowel functional outcomes and lower urinary tract symptoms (LUTS) in females with conservatively treated anterior anus. METHODS: A single-institution, cross-sectional study. All females treated conservatively for AA between 1983 and 2006 were invited to answer a postal questionnaire on bowel function and lower urinary tract symptoms. Each patient was matched by age and gender to 3 controls that had answered the same questionnaire. Ethical approval was obtained. RESULTS: Among 45 respondents (67%; median age 10.2 (4-20) years), fecal continence was comparable to controls overall (p=NS). Constipation affected a significantly higher proportion patients (36%) than controls (13%; p=0.002) and tended to decline with age. Outcomes by bowel function score were good/normal in 93%, satisfactory in 7% and poor in none. Lower urinary tract symptoms and age at toilet training were comparable to controls (p=NS). CONCLUSIONS: Up to adulthood, long-term bowel functional outcomes comparable to matched peers can be achieved in nearly all of females with AA with conservative management alone, provided that effective control of constipation is achieved. The prevalence of LUTS is comparable to controls, and toilet training can be expected to occur at the normal age.", "provenance": [ { "field": "population", "quote": "All females treated conservatively for AA between 1983 and 2006" }, { "field": "intervention", "quote": "conservatively treated anterior anus" }, { "field": "comparator", "quote": "Each patient was matched by age and gender to 3 controls that had answered the same questionnaire." }, { "field": "primaryOutcome", "quote": "characterize the controlled, long-term bowel functional outcomes and lower urinary tract symptoms (LUTS) in females with conservatively treated anterior anus" }, { "field": "result", "quote": "fecal continence was comparable to controls overall (p=NS). Constipation affected a significantly higher proportion patients (36%) than controls (13%; p=0.002)" }, { "field": "n", "quote": "Among 45 respondents (67%; median age 10.2 (4-20) years)" } ] }, { "id": "pmid:25759970", "pmid": "25759970", "doi": "10.1148/radiol.15141662", "nctId": null, "pmcid": null, "title": "Perianal Sepsis in Hematologic Malignancy: MR Imaging Appearances and Distinction from Cryptoglandular Infection in Immunocompetent Patients", "firstAuthor": "Plumb", "multipleAuthors": true, "journal": "Radiology", "year": 2015, "design": "retrospective", "n": 76, "nField": "reported", "population": "adults with perianal symptoms or systemic infection, comparing those with blood cancers to those without immune problems", "intervention": "MRI imaging to look at the pattern of perianal infection", "comparator": "immunocompetent patients with no history of immune suppression or Crohn's disease, matched by age and sex", "primaryOutcome": "MRI appearance of abscesses, fistula tracts, and swelling around the anus, and whether MRI could tell the two groups apart", "result": "Patients with blood cancers had more swelling around the anus but fewer fistulas than immunocompetent patients, with similar rates of abscesses; MRI could reliably tell the two groups apart", "resultDirection": "mixed", "quality": "moderate", "qualityWhy": "it compared two carefully matched groups with blinded image review, but it was a retrospective study that only looked at pictures rather than testing a treatment", "directness": "indirect", "limitations": "retrospective design, relatively small matched groups, and focused only on people with blood cancers or systemic sepsis rather than the general population with a perianal lump", "followUp": "", "plainFinding": "Different swelling and fistula patterns by cause", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25759970/", "sourceText": "PURPOSE: To use magnetic resonance (MR) imaging to document the appearance of perianal infection in patients with a hematologic malignancy (HM) compared with that in immunocompetent control patients. MATERIALS AND METHODS: After an ethical waiver was obtained, 38 patients with an HM were matched by age and sex to 38 control patients with no history of immunocompromise or Crohn disease. Both groups had undergone MR imaging for perianal symptoms and/or systemic sepsis. Two radiologists who were blinded to the diagnosis independently reviewed the MR images and recorded the size and distribution of abscesses and/or fistula tracts, the extent of perianal edema, and the likely diagnosis. Groups were compared by using the Mann-Whitney-Wilcoxon, χ(2), or Fisher exact test. Receiver operating characteristic (ROC) curves were constructed to estimate the ability of MR imaging to help distinguish patients with an HM from control patients. RESULTS: Patients with an HM had significantly greater perianal edema than did control patients (mean arc angle of anal canal involved, 220° vs 60°; P < .001). However, they had significantly lower rates of fistula (15 [39.5%] vs 35 [92.1%] of 38; P < .001). Abscesses were similar in frequency (10 [26.3%] vs 17 [44.7%] of 38; P = .15) and were unrelated to the degree of neutropenia (P = .71) or the use of chemotherapy (P = .10). Surgical treatment was rarely required in patients with an HM, either during the acute illness (four [10.5%] of 38) or thereafter (three [7.9%] of 38). MR imaging had an excellent ability to help discriminate patients with HM from immunocompetent patients (areas under the ROC curve, 0.91 and 0.97). CONCLUSION: Perianal infection in patients with an HM is more likely to cause diffuse perianal edema and is less likely to cause fistulas than in immunocompetent patients. MR imaging can help distinguish patients with an HM from those without immunocompromise.", "provenance": [ { "field": "population", "quote": "38 patients with an HM were matched by age and sex to 38 control patients with no history of immunocompromise or Crohn disease. Both groups had undergone MR imaging for perianal symptoms and/or systemic sepsis." }, { "field": "intervention", "quote": "To use magnetic resonance (MR) imaging to document the appearance of perianal infection in patients with a hematologic malignancy (HM)" }, { "field": "comparator", "quote": "compared with that in immunocompetent control patients" }, { "field": "primaryOutcome", "quote": "recorded the size and distribution of abscesses and/or fistula tracts, the extent of perianal edema, and the likely diagnosis" }, { "field": "result", "quote": "Patients with an HM had significantly greater perianal edema than did control patients (mean arc angle of anal canal involved, 220° vs 60°; P < .001). However, they had significantly lower rates of fistula (15 [39.5%] vs 35 [92.1%] of 38; P < .001). Abscesses were similar in frequency (10 [26.3%] vs 17 [44.7%] of 38; P = .15)" }, { "field": "n", "quote": "38 patients with an HM were matched by age and sex to 38 control patients" } ] }, { "id": "pmid:25612946", "pmid": "25612946", "doi": null, "nctId": null, "pmcid": null, "title": "[Pre-sacral cyst as differential diagnosis to recurrent pilonidal cyst with abscess]", "firstAuthor": "Tengberg", "multipleAuthors": true, "journal": "Ugeskr Laeger", "year": 2015, "design": "case-series", "n": 1, "nField": "reported", "population": "31-year-old man with repeated abscess in the crease between the buttocks", "intervention": "surgical removal of a cyst in front of the tailbone (pre-sacral cyst)", "comparator": "previous surgeries for presumed pilonidal sinus", "primaryOutcome": "resolution of the recurrent abscess/lump", "result": "after removing the pre-sacral cyst via a different surgical approach, recovery was uneventful with no further problems reported", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how often this happens or what works in general.", "directness": "indirect", "limitations": "only one patient described; no comparison group; cause of cyst and long-term outcome beyond 'uneventful' post-op course not detailed.", "followUp": "", "plainFinding": "Rare hidden cyst mimicking pilonidal disease.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25612946/", "sourceText": "A 31-year-old man presented with a recurrent abscess in the gluteal cleft. It was interpreted as a pilonidal sinus and he underwent surgery several times. The modified Bascom's asymmetric midgluteal cleft closure technique was used without satisfying clinical remission. Endoscopy, magnetic resonance imaging and transrectal ultrasound visualized a pre-sacral cyst, which was excised in toto with laterosacral approach of Kraske. A histological examination showed epidermal inclusion cyst. The post-operative course was uneventful.", "provenance": [ { "field": "population", "quote": "A 31-year-old man presented with a recurrent abscess in the gluteal cleft." }, { "field": "intervention", "quote": "a pre-sacral cyst, which was excised in toto with laterosacral approach of Kraske" }, { "field": "comparator", "quote": "he underwent surgery several times. The modified Bascom's asymmetric midgluteal cleft closure technique was used without satisfying clinical remission." }, { "field": "primaryOutcome", "quote": "The post-operative course was uneventful." }, { "field": "result", "quote": "The post-operative course was uneventful." }, { "field": "n", "quote": "A 31-year-old man presented with a recurrent abscess in the gluteal cleft." } ] }, { "id": "pmid:25523404", "pmid": "25523404", "doi": "10.1007/s00105-014-3551-3", "nctId": null, "pmcid": null, "title": "[Diagnosis and therapy of genitoanal ulcers of infectious etiology]", "firstAuthor": "Malisiewicz", "multipleAuthors": true, "journal": "Hautarzt", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with genital or anal ulcers, including risk groups like men who have sex with men, sex workers, or sex tourists", "intervention": "diagnostic and treatment approach for infectious genital/anal ulcers", "comparator": "", "primaryOutcome": "identifying the infectious cause of genital/anal ulcers", "result": "herpes simplex virus and syphilis remain most common causes, with lymphogranuloma venereum and other STIs also important in differential diagnosis, especially in unusual locations like the anus or mouth", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a narrative review summarizing literature and guidelines rather than original research testing a treatment or outcome.", "directness": "direct", "limitations": "The abstract does not report a systematic review methodology or quantitative pooling of data; it is a narrative review based on literature search and clinical experience.", "followUp": "", "plainFinding": "Bump may be herpes, syphilis, or other STI", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25523404/", "sourceText": "BACKGROUND/OBJECTIVES: In this review article the diagnostic and therapeutic principles of genital ulcers of infectious etiology are highlighted. Besides frequent causative infections rare but relevant diseases in the differential diagnosis are discussed in detail. MATERIAL AND METHODS: A Pubmed literature search was carried out, guidelines from different task groups and clinical experiences are presented. RESULTS: Infections with herpes simplex virus (first) and syphilis (second) are still the most common causes of infectious genital ulcers. An endemic occurrence, previously rare in Europe, has been observed in recent years. Particular risk groups, such as men who have sex with men (MSM), sex workers or sex tourists are affected. Even less common locations, such as the mouth or the rectum, lymphogranuloma venereum (LGV) and atypical clinical symptoms (e.g. pelvic pain in pelvic lymphadenopathy with LGV) must be considered in the differential diagnosis. CONCLUSION: In recent years sexually transmitted infections (STI) have shown a significant increase in western industrialized nations. In all cases with unclear findings in the genital and anal areas (and also in the oral cavity) STI diseases must be reconsidered in the differential diagnosis.", "provenance": [ { "field": "population", "quote": "Particular risk groups, such as men who have sex with men (MSM), sex workers or sex tourists are affected." }, { "field": "intervention", "quote": "In this review article the diagnostic and therapeutic principles of genital ulcers of infectious etiology are highlighted." }, { "field": "primaryOutcome", "quote": "In this review article the diagnostic and therapeutic principles of genital ulcers of infectious etiology are highlighted." }, { "field": "result", "quote": "Infections with herpes simplex virus (first) and syphilis (second) are still the most common causes of infectious genital ulcers." }, { "field": "result", "quote": "Even less common locations, such as the mouth or the rectum, lymphogranuloma venereum (LGV) and atypical clinical symptoms (e.g. pelvic pain in pelvic lymphadenopathy with LGV) must be considered in the differential diagnosis." } ] }, { "id": "pmid:25466213", "pmid": "25466213", "doi": "10.1186/s12879-014-0641-x", "nctId": null, "pmcid": "PMC4273458", "title": "Uncommon manifestations of Listeria monocytogenes infection", "firstAuthor": "Chavada", "multipleAuthors": true, "journal": "BMC Infect Dis", "year": 2014, "design": "case-series", "n": 3, "nField": "reported", "population": "adults with unusual infections caused by the bacteria Listeria monocytogenes, including one man with a perianal abscess", "intervention": "antibiotics and surgery to treat the Listeria infection", "comparator": "none", "primaryOutcome": "whether treatment led to recovery", "result": "all three patients, including the one with a perianal abscess, recovered well with antibiotics and surgery", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a report of just three unusual cases with no comparison group, so it cannot show how common this cause is or how well treatments generally work", "directness": "indirect", "limitations": "only one of the three cases involved a perianal abscess; this is a rare, unusual cause identified only after lab testing, not a general explanation for anal or buttock lumps", "followUp": "", "plainFinding": "Rare bacterial infection, treated successfully.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25466213/", "sourceText": "BACKGROUND: Listeria monocytogenes causes gastroenteritis, meningitis and bacteraemia in immunocompromised, pregnant patients, the elderly as well in immunocompetent patients. Focal infections with this organism are uncommon, especially in sporadic (non-outbreak) setting, require high index of suspicion and are challenging to diagnose. We present 3 cases of Listeria monocytogenes presenting as focal infections to our hospitals, all of which are the first reported cases from Australia. CASE PRESENTATION: Three unrelated cases of unique focal infections caused by Listeria monocytogenes are presented. 1) A 73 year old Caucasian lady on immunosuppression for colorectal cancer presented with prosthetic knee joint septic arthritis, 2) An 83 year old Caucasian man presented with prosthetic vascular graft infection and 3) A 60 year old Asian man with perianal abscess. Except for case 1, the other cases had a prolonged duration of symptoms on presentation. Listeria was not thought to be causative organism in any of these cases until microbiological specimens isolated the organism. Matrix Associated Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF MS) assisted in making an earlier diagnosis of the infection in all three cases. All of these patients had Listeria monocytogenes isolated from clinical specimens. They were managed with antibiotics and surgery with favourable outcomes. Public health investigations to determine any dietary association were done, however no intervention was thought to be necessary in any of the cases except provide dietary advice. The first two cases highlight the importance of microbiological sampling in serious infections for definitive antibiotic therapy to be administered. CONCLUSION: Sporadic focal infections with Listeria occur infrequently and are often not diagnosed till culture results from microbiological specimens become available. Dietary history should be an important aspect of thorough clinical history and food consumption advice is crucial in immunocompromised patients on similar lines as given to pregnant women about listeriosis.", "provenance": [ { "field": "n", "quote": "Three unrelated cases of unique focal infections caused by Listeria monocytogenes are presented." }, { "field": "population", "quote": "3) A 60 year old Asian man with perianal abscess." }, { "field": "intervention", "quote": "They were managed with antibiotics and surgery with favourable outcomes." }, { "field": "comparator", "quote": "They were managed with antibiotics and surgery with favourable outcomes." }, { "field": "primaryOutcome", "quote": "They were managed with antibiotics and surgery with favourable outcomes." }, { "field": "result", "quote": "They were managed with antibiotics and surgery with favourable outcomes." } ] }, { "id": "pmid:25421387", "pmid": "25421387", "doi": "10.1007/s10140-014-1284-3", "nctId": null, "pmcid": null, "title": "CT of acute perianal abscesses and infected fistulae: a pictorial essay", "firstAuthor": "Khati", "multipleAuthors": true, "journal": "Emerg Radiol", "year": 2015, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "Emergency room patients with suspected perianal abscess or infected fistula", "intervention": "Contrast-enhanced CT imaging", "comparator": "MRI and endorectal ultrasound", "primaryOutcome": "Usefulness of CT for diagnosing anorectal infection (abscess or fistula)", "result": "CT can show fluid/air-filled tracts and collections that indicate abscess or infected fistula, helping guide ER management", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a descriptive picture-based review article, not a study comparing patient outcomes, so it can't show whether one method works better than another.", "directness": "indirect", "limitations": "No original patient data, outcomes, or comparative results are reported; it is a pictorial/review article summarizing imaging appearances.", "followUp": "", "plainFinding": "CT can spot anal abscesses.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25421387/", "sourceText": "Computed tomography (CT) is an effective, readily available diagnostic imaging tool for evaluation of the emergency room (ER) patients with the clinical suspicion of perianal abscess and/or infected fistulous tract (anorectal sepsis). These patients usually present with perineal pain, fever, and leukocytosis. The diagnosis can be easy if the fistulous tract or abscess is visible on inspection of the perianal skin. If the tract or abscess is deep, then the clinical diagnosis can be difficult. Also, the presence of complex tracts or supralevator extension of the infection cannot be judged by external examination alone. Magnetic resonance imaging (MRI) is the best imaging test to accurately detect fistulous tracts, especially when they are complex (Omally et al. in AJR 199:W43-W53, 2012). However, in the acute setting in the ER, this imaging modality is not always immediately available. Endorectal ultrasound has also been used to identify perianal abscesses, but this modality requires hands-on expertise and can have difficulty localizing the offending fistulous tract. It may also require the use of a rectal probe, which the patient may not be able to tolerate. Contrast-enhanced CT is a very useful tool to diagnose anorectal sepsis; however, this has not received much attention in the recent literature (Yousem et al. in Radiology 167(2):331-334, 1988) aside from a paper describing CT imaging following fistulography (Liang et al. in Clin Imaging 37(6):1069-1076, 2013). An infected fistula is indicated by a fluid-/air-filled soft tissue tract surrounded by inflammation. A well-defined round to oval-shaped fluid/air collection is indicative of an abscess. The purpose of this article is to demonstrate the usefulness of contrast-enhanced CT in the diagnosis of acute anorectal sepsis in the ER setting. We will discuss the CT appearance of infected fistulous tracts and abscesses and how CT imaging can guide the ER physician in the clinical management of these patients.", "provenance": [ { "field": "population", "quote": "evaluation of the emergency room (ER) patients with the clinical suspicion of perianal abscess and/or infected fistulous tract (anorectal sepsis)" }, { "field": "intervention", "quote": "Contrast-enhanced CT is a very useful tool to diagnose anorectal sepsis" }, { "field": "comparator", "quote": "Magnetic resonance imaging (MRI) is the best imaging test to accurately detect fistulous tracts" }, { "field": "comparator", "quote": "Endorectal ultrasound has also been used to identify perianal abscesses" }, { "field": "primaryOutcome", "quote": "The purpose of this article is to demonstrate the usefulness of contrast-enhanced CT in the diagnosis of acute anorectal sepsis in the ER setting." }, { "field": "result", "quote": "An infected fistula is indicated by a fluid-/air-filled soft tissue tract surrounded by inflammation. A well-defined round to oval-shaped fluid/air collection is indicative of an abscess." } ] }, { "id": "pmid:25413733", "pmid": "25413733", "doi": "10.1111/cup.12457", "nctId": null, "pmcid": null, "title": "Hypertrophic lichen sclerosus sine sclerosis: clues to histopathologic diagnosis when presenting as psoriasiform lichenoid dermatitis", "firstAuthor": "Weyers", "multipleAuthors": false, "journal": "J Cutan Pathol", "year": 2015, "design": "case-series", "n": 100, "nField": "reported", "population": "people with lichen sclerosus skin lesions on genital or perianal skin", "intervention": "microscopic examination of skin biopsy tissue", "comparator": "biopsies from other skin conditions (mycosis fungoides, lichen planus, lichen simplex chronicus)", "primaryOutcome": "identifying microscopic features that help diagnose lichen sclerosus when the typical scar-like thickening is absent", "result": "Researchers found a group of microscopic clues (like tiny damaged tissue spots, thickened collagen fibers, dead skin cells, and patterns of inflammation) that together can confirm a diagnosis of lichen sclerosus even without the usual sclerosis.", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a descriptive lab-based review of biopsy samples with no comparison of treatments or patient outcomes, so it mainly helps pathologists recognize a condition under the microscope rather than showing what works for patients.", "directness": "indirect", "limitations": "The abstract does not describe patient symptoms, treatment, or outcomes—only microscopic diagnostic criteria.", "followUp": "", "plainFinding": "Microscopic clues identify lichen sclerosus bumps.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25413733/", "sourceText": "BACKGROUND: The histopathologic diagnosis of lichen sclerosus (LS) is usually facilitated by a subepidermal zone of sclerosis. In the absence of sclerosis, LS mostly presents itself as a psoriasiform lichenoid dermatitis that may be difficult to distinguish from other diseases. OBJECTIVE: We sought to assess histopathologic findings that allow recognition of LS in the absence of sclerosis. METHODS: We studied 28 criteria in 100 biopsy specimens of LS from genital or perianal skin, including 55 cases with marked sclerosis, 16 cases with mild sclerosis confined to foci of the papillary dermis and 29 cases without sclerosis. Fifteen cases each of the early plaque stage of mycosis fungoides, lichen planus and lichen simplex chronicus were studied for comparison. RESULTS: Some histopathologic hallmarks of LS were seen chiefly in sclerotic lesions and, therefore, did not contribute to the diagnosis of difficult cases, such as dissolution of elastic fibers. Others were seen rarely in non-sclerotic lesions but might be helpful in individual cases, including follicular hyperkeratosis and thickening of the basement membrane. Findings that were more common and may be utilized as clues to the histopathologic diagnosis of non-sclerotic LS include tiny foci of homogenized tissue in dermal papillae, marked fibrosis with thickening of the papillary dermis, marked thickening of individual collagen fibers, lymphocytes aligned in rows between those fibers, necrotic keratinocytes, often with preserved pyknotic nuclei, in all reaches of the epidermis, including the cornified layer, clustering of necrotic keratinocytes above elongated dermal papillae and vertical columns of parakeratosis with distinct dyskeratotic parakeratotic cells. CONCLUSION: In the absence of sclerosis, histopathologic diagnosis of LS depends on findings that are less distinctive. Nonetheless, a constellation of those findings allows a specific diagnosis to be made.", "provenance": [ { "field": "population", "quote": "100 biopsy specimens of LS from genital or perianal skin" }, { "field": "n", "quote": "100 biopsy specimens of LS" }, { "field": "intervention", "quote": "We studied 28 criteria in 100 biopsy specimens of LS" }, { "field": "comparator", "quote": "Fifteen cases each of the early plaque stage of mycosis fungoides, lichen planus and lichen simplex chronicus were studied for comparison" }, { "field": "primaryOutcome", "quote": "We sought to assess histopathologic findings that allow recognition of LS in the absence of sclerosis" }, { "field": "result", "quote": "Findings that were more common and may be utilized as clues to the histopathologic diagnosis of non-sclerotic LS include tiny foci of homogenized tissue in dermal papillae, marked fibrosis with thickening of the papillary dermis, marked thickening of individual collagen fibers, lymphocytes aligned in rows between those fibers, necrotic keratinocytes" } ] }, { "id": "pmid:25308220", "pmid": "25308220", "doi": null, "nctId": null, "pmcid": null, "title": "[Patients with a therapy-resistant anal fissure: beware of malignancies]", "firstAuthor": "Marres", "multipleAuthors": true, "journal": "Ned Tijdschr Geneeskd", "year": 2014, "design": "case-series", "n": 3, "nField": "reported", "population": "adults with anal fissures that did not respond to treatment, aged 53, 39 and 70", "intervention": "examination under anaesthesia with biopsy", "comparator": "none", "primaryOutcome": "finding of cancer in the anal area", "result": "all three patients turned out to have anal cancer", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "only three cases with no comparison group, so it cannot show how common this is", "directness": "direct", "limitations": "Very small number of patients and no control group; abstract does not describe how patients were selected.", "followUp": "", "plainFinding": "Fissure hid anal cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25308220/", "sourceText": "In this article we describe three patients aged 53, 39 and 70 with a therapy-resistant anal fissure. Each patient was inspected under anaesthesia. In all three cases a suspicious lesion or swelling was observed and all biopsies taken showed anal malignancies. Although anal malignancies are rare, their incidence has increased significantly over the past 22 years in the Netherlands (from 71 patients in 1989 to 215 in 2012). It is important to be aware of the possibility of malignancies among patients with a therapy-resistant anal fissure. Therefore, we recommend performing an inspection under anaesthesia in these patients to obtain tissue for histological analysis.", "provenance": [ { "field": "n", "quote": "three patients aged 53, 39 and 70" }, { "field": "population", "quote": "three patients aged 53, 39 and 70 with a therapy-resistant anal fissure" }, { "field": "intervention", "quote": "Each patient was inspected under anaesthesia" }, { "field": "comparator", "quote": "In all three cases a suspicious lesion or swelling was observed and all biopsies taken showed anal malignancies." }, { "field": "primaryOutcome", "quote": "all biopsies taken showed anal malignancies" }, { "field": "result", "quote": "all biopsies taken showed anal malignancies" } ] }, { "id": "pmid:25246189", "pmid": "25246189", "doi": "10.1007/s00247-014-3085-y", "nctId": null, "pmcid": null, "title": "Perianal disease in pediatric Crohn disease: a review of MRI findings", "firstAuthor": "Compton", "multipleAuthors": true, "journal": "Pediatr Radiol", "year": 2014, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "children with Crohn disease and perianal complications", "intervention": "MRI imaging to evaluate perianal fistulas", "comparator": "other imaging modalities", "primaryOutcome": "characterization of perianal fistulas and anatomy", "result": "MRI described as excellent for characterizing perianal fistulas in children, with fistulas more common in male patients", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a narrative review describing imaging methods, not a study measuring treatment outcomes or testing a hypothesis.", "directness": "indirect", "limitations": "No patient outcome data, study design, or sample size reported; purely descriptive/educational review.", "followUp": "", "plainFinding": "Anal bump may be Crohn's fistula.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25246189/", "sourceText": "Perianal complications of Crohn disease are a common occurrence in children and can result in significant morbidity when not accurately characterized prior to surgical intervention. MRI is an excellent imaging modality for the evaluation of perianal inflammatory bowel disease - allowing characterization and detailed description of perianal fistulas. MRI has many advantages over other imaging modalities for the pediatric patient. Radiologists will benefit from a sophisticated understanding of perianal anatomy, the classification of perianal fistulas, the advantages MRI offers in characterization of perianal fistulas as well as the common and incidental findings that are important in the MRI evaluation of perianal inflammatory bowel disease in children. Perianal fistulas are found at a high rate in pediatric referrals and are more commonly found in male patients.", "provenance": [ { "field": "population", "quote": "Perianal complications of Crohn disease are a common occurrence in children" }, { "field": "intervention", "quote": "MRI is an excellent imaging modality for the evaluation of perianal inflammatory bowel disease - allowing characterization and detailed description of perianal fistulas" }, { "field": "comparator", "quote": "MRI has many advantages over other imaging modalities for the pediatric patient" }, { "field": "primaryOutcome", "quote": "the classification of perianal fistulas, the advantages MRI offers in characterization of perianal fistulas" }, { "field": "result", "quote": "Perianal fistulas are found at a high rate in pediatric referrals and are more commonly found in male patients." } ] }, { "id": "pmid:25234950", "pmid": "25234950", "doi": "10.1007/s00120-014-3619-9", "nctId": null, "pmcid": null, "title": "[Urethral condylomata acuminata]", "firstAuthor": "Brummeisl", "multipleAuthors": true, "journal": "Urologe A", "year": 2015, "design": "case-series", "n": 2, "nField": "reported", "population": "people with genital/anal warts caused by HPV affecting the urethra", "intervention": "description of urethral condyloma acuminata (genital warts) affecting the whole urethra", "comparator": "", "primaryOutcome": "cause and treatment of urethral warts", "result": "two patients had genital warts extending through the entire urethra, illustrating causes, diagnosis, and treatment options", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is just a report of two patient cases plus a general review, not a study that tests whether a treatment works.", "directness": "direct", "limitations": "Only two cases described, with no control group or statistical comparison, and no outcome data on how well treatments worked.", "followUp": "", "plainFinding": "Anal/genital bump is a wart from HPV.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25234950/", "sourceText": "Condyloma acuminata are the most frequent cause of infections in the anal genital area. They are caused by the human papilloma virus (HPV). Risk factors are early onset of sexual activity, multiple sexual partners, a history of sexually transmitted disease, and immunosuppression. The urethra is afflicted in only 20% of cases; of these, 80% of the warts are at the meatus and 20% in the proximal urethra. This article reports on two cases with condyloma acuminata affection of the total urethra. The current diagnostic, different treatment modalities, and prophylaxis are reviewed.", "provenance": [ { "field": "population", "quote": "Condyloma acuminata are the most frequent cause of infections in the anal genital area." }, { "field": "intervention", "quote": "This article reports on two cases with condyloma acuminata affection of the total urethra." }, { "field": "primaryOutcome", "quote": "The current diagnostic, different treatment modalities, and prophylaxis are reviewed." }, { "field": "result", "quote": "This article reports on two cases with condyloma acuminata affection of the total urethra." }, { "field": "n", "quote": "two cases" } ] }, { "id": "pmid:25038854", "pmid": "25038854", "doi": "10.1007/s00330-014-3302-y", "nctId": null, "pmcid": null, "title": "Diffusion-weighted MR imaging for the diagnosis of abscess complicating fistula-in-ano: preliminary experience", "firstAuthor": "Dohan", "multipleAuthors": true, "journal": "Eur Radiol", "year": 2014, "design": "retrospective", "n": 24, "nField": "reported", "population": "patients with an anal fistula (fistula-in-ano)", "intervention": "diffusion-weighted MRI (DWMRI)", "comparator": "standard T2-weighted MRI (T2-TSE)", "primaryOutcome": "accuracy of detecting an abscess complicating the fistula", "result": "DWMRI detected fistulas and abscesses with higher sensitivity and specificity, and showed fistulas more clearly than standard T2-weighted MRI", "resultDirection": "benefit", "quality": "low", "qualityWhy": "This was a small, retrospective study of only 24 patients testing an imaging technique, not a treatment, so it says little about the cause or management of a bump near the anus.", "directness": "indirect", "limitations": "Retrospective design, small sample size (24 patients), described by the authors as 'preliminary experience'.", "followUp": "", "plainFinding": "Better imaging spots hidden abscess.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/25038854/", "sourceText": "OBJECTIVE: To investigate the role of diffusion-weighted magnetic resonance imaging (DWMRI) in the diagnosis of abscess-complicating fistula-in-ano. METHODS: This retrospective study was approved by our Institutional Review Board and informed consent was waived. MRI examinations, including fat-suppressed T2-weighted turbo spin-echo (T2-TSE) MRI and DWMRI, of 24 patients with a fistula-in-ano, were reviewed by two independent readers for the presence and number of visible fistulas, conspicuity and apparent diffusion coefficient (ADC) measurement of suspected fistula tracks and pelvic collections. The reference standard was surgical with follow-up findings. RESULTS: Sensitivity was 91.2 % [95 % CI: 76 %-98 %] for T2-weighted TSE MRI and 100 % [95 % CI: 90 %-100 %] for DWMRI detecting fistulas. ADC values were lower in abscesses than in inflammatory masses (P = 0.714.10(-6)). The area under the ROC curve was 0.971 and the optimal cut-off ADC value was 1.186 × 10(-3) mm(2)/s, yielding a sensitivity of 100 % [95 % CI: 77 %-100 %], a specificity of 90 % [95 % CI: 66 %-100 %], a positive predictive value of 93 % [95 % CI: 82.8 %-100 %] and a negative predictive value of 90 % [95 % CI: 78 %-100 %] for an abscess diagnosis. Fistula conspicuity was greater with DWMRI than with T2-TSE MRI for the two observers (P = 0.0034 and P = 0.0007). CONCLUSION: DWMRI shows high sensitivity and specificity for the diagnosis of perianal abscesses and helps discriminate between an abscess and inflammatory mass. Conspicuity of fistulas-in-ano is greater with DWMRI than with T2-weighted TSE MRI. KEY POINTS: • DWMRI can differentiate between pelvic abscess and inflammatory mass. • DWMRI helps avoid gadolinium-chelate administration in patients with a suspected fistula-in-ano. • DWMRI provides high degrees of conspicuity for fistula-in-ano. • Conspicuity of fistulas is better with DWMRI imaging than with T2-TSE-weighted MRI.", "provenance": [ { "field": "population", "quote": "24 patients with a fistula-in-ano" }, { "field": "intervention", "quote": "diffusion-weighted magnetic resonance imaging (DWMRI)" }, { "field": "comparator", "quote": "fat-suppressed T2-weighted turbo spin-echo (T2-TSE) MRI" }, { "field": "primaryOutcome", "quote": "To investigate the role of diffusion-weighted magnetic resonance imaging (DWMRI) in the diagnosis of abscess-complicating fistula-in-ano." }, { "field": "result", "quote": "Sensitivity was 91.2 % [95 % CI: 76 %-98 %] for T2-weighted TSE MRI and 100 % [95 % CI: 90 %-100 %] for DWMRI detecting fistulas." }, { "field": "result", "quote": "Fistula conspicuity was greater with DWMRI than with T2-TSE MRI for the two observers (P = 0.0034 and P = 0.0007)." }, { "field": "n", "quote": "24 patients with a fistula-in-ano" } ] }, { "id": "pmid:24915940", "pmid": "24915940", "doi": "10.1007/s10151-014-1176-2", "nctId": null, "pmcid": null, "title": "Ultrasonographic evaluation of anal endometriosis: report of four cases", "firstAuthor": "Kołodziejczak", "multipleAuthors": true, "journal": "Tech Coloproctol", "year": 2014, "design": "case-series", "n": 4, "nField": "reported", "population": "women with lumps near the anus found to have endometriosis in that area", "intervention": "transperineal and high-resolution 3D endoanal ultrasound to look at the lesion before surgery", "comparator": "surgical and pathology findings after removal", "primaryOutcome": "whether ultrasound appearance matched the actual diagnosis found at surgery/pathology", "result": "ultrasound showed hypoechoic cystic lesions with microcalcifications that matched surgical and pathology findings in all four cases", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is only four cases with no comparison group, so it cannot show how common this cause of a bump is or rule out other causes.", "directness": "indirect", "limitations": "Very small number of patients (4), all women, no control group, and the abstract does not describe how typical or common this presentation is among people with anal/buttock lumps in general.", "followUp": "", "plainFinding": "Lump was endometriosis, seen on ultrasound.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24915940/", "sourceText": "BACKGROUND: The presence of endometriosis in the anal canal and perianal tissues is rare and difficult to suspect at clinical examination. We report our experience with preoperative ultrasound evaluation of four cases of anal endometriosis. METHODS: Four patients were evaluated by transperineal and high-resolution three-dimensional endoanal ultrasonography. RESULTS: In 3 of 4 women, the lesions involved old episiotomy scars. Anal endometriosis appeared as hypoechoic cystic lesions with areas of microcalcification, not well delimited and highly vascularized. The lesions either involved the anal sphincter (n = 2, one within the rectovaginal septum) or were localized superficially in the ischiorectal space (n = 2). Surgery and pathologic exam confirmed the ultrasonographic findings. CONCLUSIONS: Ultrasonographic findings of anal endometriosis are characteristics and may allow accurate preoperative staging of the disease.", "provenance": [ { "field": "n", "quote": "Four patients were evaluated by transperineal and high-resolution three-dimensional endoanal ultrasonography." }, { "field": "population", "quote": "The presence of endometriosis in the anal canal and perianal tissues is rare and difficult to suspect at clinical examination." }, { "field": "intervention", "quote": "Four patients were evaluated by transperineal and high-resolution three-dimensional endoanal ultrasonography." }, { "field": "comparator", "quote": "Surgery and pathologic exam confirmed the ultrasonographic findings." }, { "field": "primaryOutcome", "quote": "Surgery and pathologic exam confirmed the ultrasonographic findings." }, { "field": "result", "quote": "Anal endometriosis appeared as hypoechoic cystic lesions with areas of microcalcification, not well delimited and highly vascularized." }, { "field": "result", "quote": "Surgery and pathologic exam confirmed the ultrasonographic findings." } ] }, { "id": "pmid:24893818", "pmid": "24893818", "doi": null, "nctId": null, "pmcid": null, "title": "[A 37-year-old woman with anogenital warts]", "firstAuthor": "Vos", "multipleAuthors": true, "journal": "Ned Tijdschr Geneeskd", "year": 2014, "design": "case-series", "n": 1, "nField": "reported", "population": "a 37-year-old woman with Crohn's disease who had wart-like bumps near her vulva and anus", "intervention": "none described - this was a diagnostic work-up, not a treatment study", "comparator": "none described", "primaryOutcome": "figuring out what was causing the wart-like lumps in the genital and anal area", "result": "the lumps were found to be a rare skin manifestation of Crohn's disease, not genital warts", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this cause is or how it compares to other causes", "directness": "indirect", "limitations": "single case report with no control group or long-term outcome data", "followUp": "", "plainFinding": "Bump caused by underlying Crohn's disease", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24893818/", "sourceText": "A 37-year-old woman, who had been suffering from Crohn's disease since twenty-two years, visited our dermatology outpatient clinic with complaints of wart-like lesions in the vulvar and perianal regions. On physical examination, nodules, plaques and tumours were seen. Histological examination showed features compatible with Crohn's disease. The diagnosis metastatic Crohn's disease was made.", "provenance": [ { "field": "population", "quote": "A 37-year-old woman, who had been suffering from Crohn's disease since twenty-two years, visited our dermatology outpatient clinic with complaints of wart-like lesions in the vulvar and perianal regions" }, { "field": "n", "quote": "A 37-year-old woman" }, { "field": "intervention", "quote": "On physical examination, nodules, plaques and tumours were seen." }, { "field": "comparator", "quote": "On physical examination, nodules, plaques and tumours were seen." }, { "field": "primaryOutcome", "quote": "Histological examination showed features compatible with Crohn's disease." }, { "field": "result", "quote": "The diagnosis metastatic Crohn's disease was made." } ] }, { "id": "pmid:24758964", "pmid": "24758964", "doi": "10.1016/j.mcna.2014.01.011", "nctId": null, "pmcid": null, "title": "Common anal problems", "firstAuthor": "Klein", "multipleAuthors": false, "journal": "Med Clin North Am", "year": 2014, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "people with anal problems seen by primary care providers", "intervention": "primary care evaluation and management of anal problems", "comparator": "", "primaryOutcome": "", "result": "", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a general review article that does not present study data, methods, or outcome results to judge effectiveness.", "directness": "indirect", "limitations": "The abstract gives no information on study design, population numbers, specific interventions compared, or measured outcomes.", "followUp": "", "plainFinding": "No specific finding reported.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24758964/", "sourceText": "Anal problems are pervasive, embarrassing and vexing to patients. Primary care providers should be well versed in addressing these concerns, which uncommonly require referral for specialty care. Additionally, anal symptoms and findings may herald previously undiagnosed underlying illness.", "provenance": [ { "field": "population", "quote": "Anal problems are pervasive, embarrassing and vexing to patients." }, { "field": "intervention", "quote": "Primary care providers should be well versed in addressing these concerns, which uncommonly require referral for specialty care." } ] }, { "id": "pmid:24742083", "pmid": "24742083", "doi": null, "nctId": null, "pmcid": null, "title": "Anorectal conditions: hemorrhoids", "firstAuthor": "Fox", "multipleAuthors": true, "journal": "FP Essent", "year": 2014, "design": "narrative-review", "n": null, "nField": "not-reported", "population": "People with hemorrhoids (swollen blood vessels around the anus)", "intervention": "Various treatments including fiber, sitz baths, drugs, rubber band ligation, and surgery", "comparator": "Comparison between non-surgical and surgical treatment approaches", "primaryOutcome": "Resolution of hemorrhoid symptoms like bleeding, pain, or prolapse", "result": "Different treatments work depending on severity; banding is most effective office procedure for milder grades, surgery needed for severe or resistant cases", "resultDirection": "unclear", "quality": "low", "qualityWhy": "This is a general review article describing typical practice rather than presenting new trial data comparing treatments.", "directness": "direct", "limitations": "No original data, sample size, or comparative outcomes reported; it's a narrative summary of accepted management approaches.", "followUp": "", "plainFinding": "A bump on your anus is likely a hemorrhoid.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24742083/", "sourceText": "Hemorrhoids are engorged fibrovascular cushions lining the anal canal. Constipation, increased intra-abdominal pressure, and prolonged straining predispose to hemorrhoids. Approximately 1 in 20 Americans and almost one-half of individuals older than 50 years experience symptomatic hemorrhoids. Bright red, painless rectal bleeding during defecation is the most common presentation. Even if hemorrhoids are seen on examination, patients with rectal bleeding who are at risk of colorectal cancer (eg, adults older than 50 years) should still undergo colonoscopy to exclude cancer as the etiology. Nonsurgical treatment for nonthrombosed hemorrhoids includes increased fiber intake, sitz baths, and drugs. If nonsurgical management is unsuccessful, rubber band ligation is the most effective office-based procedure for grades I, II, and III hemorrhoids. Surgical hemorrhoidectomy is indicated after failure of nonsurgical management and office-based procedures and also as initial management for grades III and IV hemorrhoids. Several different procedures can be used. For acutely thrombosed external hemorrhoids, excision and evacuation of the clot, ideally within 72 hours of symptom onset, is the optimal management. Prolapsed and strangulated hemorrhoids are best managed with stool softeners, analgesics, rest, warm soaks, and ice packs until recovery; residual hemorrhoids are banded or excised later.", "provenance": [ { "field": "population", "quote": "Hemorrhoids are engorged fibrovascular cushions lining the anal canal." }, { "field": "intervention", "quote": "Nonsurgical treatment for nonthrombosed hemorrhoids includes increased fiber intake, sitz baths, and drugs." }, { "field": "comparator", "quote": "If nonsurgical management is unsuccessful, rubber band ligation is the most effective office-based procedure for grades I, II, and III hemorrhoids." }, { "field": "primaryOutcome", "quote": "Bright red, painless rectal bleeding during defecation is the most common presentation." }, { "field": "result", "quote": "Surgical hemorrhoidectomy is indicated after failure of nonsurgical management and office-based procedures and also as initial management for grades III and IV hemorrhoids." } ] }, { "id": "pmid:24702041", "pmid": "24702041", "doi": "10.3109/13814788.2014.899578", "nctId": null, "pmcid": "PMC4438346", "title": "The prevalence of proctological symptoms amongst patients who see general practitioners in France", "firstAuthor": "Abramowitz", "multipleAuthors": true, "journal": "Eur J Gen Pract", "year": 2014, "design": "prospective-cohort", "n": 1079, "nField": "reported", "population": "adult patients seen during general practice consultations in France", "intervention": "doctors specifically asking patients about anal symptoms during the visit", "comparator": "patients who came in on their own without being asked about anal symptoms", "primaryOutcome": "how often anal/proctological symptoms were found, either spontaneously reported or only after questioning", "result": "only 2% of patients came in mainly for anal symptoms, but questioning uncovered anal symptoms in 14%, most often bleeding, pain, itching, or swelling, with diagnoses including hemorrhoids and anal fissure", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this was a one-time questionnaire survey of GP visits with no comparison group or long-term follow-up, so it can only show how common symptoms are, not why a bump happens or what helps.", "directness": "indirect", "limitations": "Self-reported symptoms, short 2.5-day sampling window, single-country general practice setting, and diagnoses based partly on questioning alone rather than examination.", "followUp": "", "plainFinding": "Anal lumps often hidden, usually hemorrhoids", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24702041/", "sourceText": "BACKGROUND: Patients do not often discuss anal symptoms, resulting in late diagnosis of proctological disorders and impacting health. Poor epidemiological knowledge is a contributing factor to this, which can be a significant problem in general medicine. Authors evaluated the role of family doctors in proctological disorders by assessing how many of these are spontaneously diagnosed and how many are diagnosed after questioning the patient. METHODS: Thirty-nine general practitioners completed a targeted questionnaire to assess all patients seen prospectively over 2.5 days of consultations. RESULTS: A total of 1079 questionnaires were completed, 621 (58%) for females and 458 (42%) for males with a median age of 54. Twenty-two patients (2%) were seen primarily for anal symptoms. Following questioning, an anal symptom was found in 153 patients (14%). Symptoms reported were: bleeding (32%), pain (31%), pruritus ani (22%), swelling (22%), oozing (14%), and anal discharge (14%). Physicians' diagnoses were: haemorrhoids, anal fissure, anal discharge, dermatology disease, and functional disorder. In 35% of patients, questioning alone was used to make these diagnoses. Anal incontinence was the only factor associated with referral to a specialist (OR = 5; 95% CI: 1.4-17.8). CONCLUSION: The role of proctology in the general population appears to be significant. In five out of six cases, patients conceal anal symptoms. The high proportion of unexamined patients with anal symptoms is probably multifactorial. Further studies are needed to identify these and put in place the improvement of diagnosis and treatment of anal disorder.", "provenance": [ { "field": "n", "quote": "A total of 1079 questionnaires were completed" }, { "field": "population", "quote": "all patients seen prospectively over 2.5 days of consultations" }, { "field": "intervention", "quote": "Following questioning, an anal symptom was found in 153 patients (14%)." }, { "field": "comparator", "quote": "Twenty-two patients (2%) were seen primarily for anal symptoms." }, { "field": "primaryOutcome", "quote": "assessing how many of these are spontaneously diagnosed and how many are diagnosed after questioning the patient" }, { "field": "result", "quote": "Symptoms reported were: bleeding (32%), pain (31%), pruritus ani (22%), swelling (22%), oozing (14%), and anal discharge (14%). Physicians' diagnoses were: haemorrhoids, anal fissure, anal discharge, dermatology disease, and functional disorder." } ] }, { "id": "pmid:24444268", "pmid": "24444268", "doi": "10.9738/INTSURG-D-13-00149.1", "nctId": null, "pmcid": "PMC3897340", "title": "A rare case of granular cell tumor of the anal region: diagnostic difficulty to masses in the anal area", "firstAuthor": "Fujii", "multipleAuthors": true, "journal": "Int Surg", "year": 2014, "design": "case-series", "n": 1, "nField": "reported", "population": "a 66-year-old woman with a lump near the anus", "intervention": "surgical removal of the mass", "comparator": "none", "primaryOutcome": "diagnosis of the anal mass after removal", "result": "the mass was a rare benign tumor called granular cell tumor", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a report of just one patient, so it cannot show how common or risky this is for others", "directness": "direct", "limitations": "single case report with no comparison group, so findings may not generalize", "followUp": "", "plainFinding": "Rare benign tumor found and removed.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24444268/", "sourceText": "Granular cell tumor may be located anywhere in the body; however, the gastrointestinal tract is infrequently involved and anal granular cell tumors are extremely rare. We report herein a rare case of granular cell tumor in the anal region. In the current case, a 66-year-old Japanese woman was found to have a polypoid lesion in the anus with hemorrhoids. The mass detected as an anal polypoid lesion with ulceration was resected and diagnosed as granular cell tumor by histologic examination. Granular cell tumor of the anal region is rare, and benign perianal polypoid lesions are relatively uncommon clinical findings. They might present diagnostic challenges to surgeons and pathologists. Awareness of the differential diagnosis of granular cell tumor and careful microscopic examination might allow proper management and diagnosis.", "provenance": [ { "field": "n", "quote": "a 66-year-old Japanese woman was found to have a polypoid lesion in the anus with hemorrhoids" }, { "field": "population", "quote": "a 66-year-old Japanese woman was found to have a polypoid lesion in the anus with hemorrhoids" }, { "field": "intervention", "quote": "The mass detected as an anal polypoid lesion with ulceration was resected" }, { "field": "comparator", "quote": "The mass detected as an anal polypoid lesion with ulceration was resected and diagnosed as granular cell tumor by histologic examination." }, { "field": "primaryOutcome", "quote": "diagnosed as granular cell tumor by histologic examination" }, { "field": "result", "quote": "diagnosed as granular cell tumor by histologic examination" } ] }, { "id": "pmid:24397221", "pmid": "24397221", "doi": null, "nctId": null, "pmcid": null, "title": "Recognizing and treating anal cancer: training medical students and physicians in Puerto Rico", "firstAuthor": "Ortiz", "multipleAuthors": true, "journal": "P R Health Sci J", "year": 2013, "design": "registry", "n": 34, "nField": "reported", "population": "medical students, residents, and faculty in Puerto Rico", "intervention": "educational training session on anal cancer", "comparator": "before vs after training (pre-test vs post-test)", "primaryOutcome": "change in knowledge about anal cancer screening and treatment", "result": "knowledge scores improved after training", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "This is a small educational survey of medical trainees, not a study of patients or of what causes anal lumps, so it cannot answer the question.", "directness": "indirect", "limitations": "Small sample, self-selected respondents (68% response), no control group, measures knowledge not patient outcomes.", "followUp": "", "plainFinding": "Training improved doctors' anal cancer knowledge.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24397221/", "sourceText": "OBJECTIVE: This training activity aimed at increasing the knowledge of anal cancer screening, diagnostic and treatment options in medical students and physicians, to determine the interest of these individuals in receiving training in the diagnosis and treatment of anal cancer, and to explore any previous training and/or experience with both anal cancer and clinical trials that these individuals might have. METHODS: An educational activity (1.5 contact hours) was attended by a group of medical students, residents and several faculty members, all from the Medical Sciences Campus of the University of Puerto Rico (n = 50). A demographic survey and a 6-item pre- and post-test on anal cancer were given to assess knowledge change. RESULTS: Thirty-four participants (68%) answered the survey. Mean age was 29.6 +/- 6.6 years; 78.8% had not received training in anal cancer screening, 93.9% reported being interested in receiving anal cancer training, and 75.8% expressed an interest in leading or conducting a clinical trial. A significant increase in the test scores was observed after the educational activity (pre-test: 3.4 +/- 1.2; post-test: 4.7 +/- 0.71). Three of the items showed an increase in knowledge by the time the post-test was taken. The first of these items assessed the participants' knowledge regarding the existence of any guidelines for the screening/treatment of patients with human papillomavirus (HPV)-related anal disease. The second of these items attempted to determine whether the participants recognized that anal intraepithelial neoplasia (AIN) 2 is considered to be a high-grade neoplasia. The last of the 3 items was aimed at ascertaining whether or not the participants were aware that warty growths in the anus are not necessarily a manifestation of high-grade AIN. CONCLUSION: This educational activity increased the participants' knowledge of anal cancer and revealed, as well, that most of the participants were interested in future training and in collaborating in a clinical trial. Training physicians from Puerto Rico on anal cancer clinical trials is essential to encourage recruitment of Hispanic patients in these studies now that the guidelines in anal cancer screening and treatment are on their way to be defined.", "provenance": [ { "field": "population", "quote": "a group of medical students, residents and several faculty members, all from the Medical Sciences Campus of the University of Puerto Rico (n = 50)" }, { "field": "n", "quote": "Thirty-four participants (68%) answered the survey." }, { "field": "intervention", "quote": "An educational activity (1.5 contact hours) was attended by a group of medical students, residents and several faculty members" }, { "field": "comparator", "quote": "A demographic survey and a 6-item pre- and post-test on anal cancer were given to assess knowledge change." }, { "field": "primaryOutcome", "quote": "A significant increase in the test scores was observed after the educational activity (pre-test: 3.4 +/- 1.2; post-test: 4.7 +/- 0.71)." }, { "field": "result", "quote": "A significant increase in the test scores was observed after the educational activity (pre-test: 3.4 +/- 1.2; post-test: 4.7 +/- 0.71)." } ] }, { "id": "pmid:24238247", "pmid": "24238247", "doi": "10.1016/j.annpat.2013.08.003", "nctId": null, "pmcid": null, "title": "[Anal verruciform xanthoma in a transplant background for primary hyperoxaluria. Anal verruciform xanthoma after a combined hepato-renal transplantation]", "firstAuthor": "Moktefi", "multipleAuthors": true, "journal": "Ann Pathol", "year": 2013, "design": "case-series", "n": 1, "nField": "reported", "population": "A patient who had a combined liver and kidney transplant for a genetic disease called primary hyperoxaluria", "intervention": "Not applicable - this is a case report describing a condition, not a treatment", "comparator": "", "primaryOutcome": "What the anal lesion was and what caused it", "result": "The bump was a rare, benign growth called verruciform xanthoma, linked to a weakened immune system from transplant drugs", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this is or what causes it in general.", "directness": "direct", "limitations": "Only one patient; cause of the condition is not well understood even by the authors.", "followUp": "", "plainFinding": "Rare benign growth, not cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24238247/", "sourceText": "We report a case of anal verruciform xanthoma in a patient who underwent a combined liver and kidney transplantation for primary hyperoxaluria. Verruciform xanthoma is a rare and benign lesion arising in oral cavity and genital mucosa. It is characterized pathologically by papillary epithelial hyperplasia and aggregates of foamy macrophages in connective tissue papillae. This condition, whose pathogenesis remains unclear, has been reported in immunosuppressive background or associated with underlying dermatosis. We report here the second case of anal verruciform xanthoma. To our knowledge, this is the first report of verruciform xanthoma in association with primary hyperoxaluria.", "provenance": [ { "field": "population", "quote": "We report a case of anal verruciform xanthoma in a patient who underwent a combined liver and kidney transplantation for primary hyperoxaluria." }, { "field": "primaryOutcome", "quote": "We report a case of anal verruciform xanthoma" }, { "field": "result", "quote": "Verruciform xanthoma is a rare and benign lesion arising in oral cavity and genital mucosa." }, { "field": "result", "quote": "This condition, whose pathogenesis remains unclear, has been reported in immunosuppressive background or associated with underlying dermatosis." }, { "field": "n", "quote": "We report here the second case of anal verruciform xanthoma." }, { "field": "intervention", "quote": "We report a case of anal verruciform xanthoma in a patient who underwent a combined liver and kidney transplantation for primary hyperoxaluria." } ] }, { "id": "pmid:24072832", "pmid": "24072832", "doi": "10.1136/bcr-2013-200504", "nctId": null, "pmcid": "PMC3794179", "title": "Perianal Paget's disease: a diagnostic dilemma", "firstAuthor": "Jabir", "multipleAuthors": true, "journal": "BMJ Case Rep", "year": 2013, "design": "case-series", "n": 1, "nField": "reported", "population": "a 50-year-old man with a perianal skin lesion", "intervention": "none (diagnostic workup and treatment of perianal Paget's disease)", "comparator": "none", "primaryOutcome": "diagnosis and management of perianal Paget's disease", "result": "case illustrates difficulty diagnosing perianal Paget's disease and need for workup to exclude underlying cancer", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show whether treatments work or how common this is.", "directness": "direct", "limitations": "Single case report; no comparison group or outcome data on treatment effectiveness.", "followUp": "", "plainFinding": "Rare skin condition, needs cancer workup.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24072832/", "sourceText": "Perianal Paget's disease (PPD) is part of the spectrum of pagetoid skin lesions occurring outside the region of the nipple/areolar complex that are collectively referred to as extramammary Paget's disease (EMPD). However, unlike Paget's disease of the breast, which in the vast majority of cases is invariably associated with an underlying ductal carcinoma, most cases of EMPD occur as either insitu or invasive adenocarcinomas with visceral malignancy being a rare entity. We present a case of a 50-year-old man who was referred to us with PPD. This case highlights the difficulties associated with making a clinical diagnosis of this condition. Furthermore, investigative workup to exclude possible malignancy with associated metastatic spread as well as the treatment options available are also discussed. In addition, this case highlights the need for a multidisciplinary team approach when dealing with this difficult problem.", "provenance": [ { "field": "population", "quote": "a 50-year-old man who was referred to us with PPD" }, { "field": "primaryOutcome", "quote": "investigative workup to exclude possible malignancy with associated metastatic spread as well as the treatment options available are also discussed" }, { "field": "result", "quote": "This case highlights the difficulties associated with making a clinical diagnosis of this condition." }, { "field": "n", "quote": "a 50-year-old man" }, { "field": "intervention", "quote": "investigative workup to exclude possible malignancy with associated metastatic spread as well as the treatment options available are also discussed" }, { "field": "comparator", "quote": "We present a case of a 50-year-old man who was referred to us with PPD." } ] }, { "id": "pmid:24063673", "pmid": "24063673", "doi": null, "nctId": null, "pmcid": null, "title": "[Perianal fistulae and abscesses in children: consider Crohn's disease]", "firstAuthor": "Coblijn", "multipleAuthors": true, "journal": "Ned Tijdschr Geneeskd", "year": 2013, "design": "case-series", "n": 4, "nField": "reported", "population": "children with repeated lumps, tunnels, or abscesses around the anus", "intervention": "medical treatment for Crohn's disease once diagnosed", "comparator": "surgery for the perianal lesions", "primaryOutcome": "whether the perianal lumps and abscesses went away", "result": "the perianal lesions disappeared after Crohn's disease was treated, without needing surgery", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is just four children's case reports, not a controlled study, so it can't reliably prove what works.", "directness": "indirect", "limitations": "only four cases described, no comparison group, and it focuses specifically on children where Crohn's disease is the cause rather than all causes of anal bumps.", "followUp": "", "plainFinding": "Anal lumps went away once Crohn's disease treated", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24063673/", "sourceText": "While perianal fistulae and abscesses in infants usually occur as an isolated phenomenon, in older children Crohn's disease might be the underlying etiologic factor. We present four children of different ages with recurrent perianal fistulae and abscesses. Only after the diagnosis Crohn's disease was established and adequate treatment was initiated, the perianal lesions disappeared without further surgical treatment. Perianal fistulae and abscesses in older children should raise the suspicion of Crohn's disease, in which case therapy is indicated to induce and maintain remission of the underlying disease instead of surgical intervention.", "provenance": [ { "field": "n", "quote": "We present four children of different ages with recurrent perianal fistulae and abscesses." }, { "field": "population", "quote": "We present four children of different ages with recurrent perianal fistulae and abscesses." }, { "field": "intervention", "quote": "Only after the diagnosis Crohn's disease was established and adequate treatment was initiated, the perianal lesions disappeared without further surgical treatment." }, { "field": "comparator", "quote": "therapy is indicated to induce and maintain remission of the underlying disease instead of surgical intervention" }, { "field": "primaryOutcome", "quote": "the perianal lesions disappeared without further surgical treatment" }, { "field": "result", "quote": "Only after the diagnosis Crohn's disease was established and adequate treatment was initiated, the perianal lesions disappeared without further surgical treatment." } ] }, { "id": "pmid:24011278", "pmid": "24011278", "doi": null, "nctId": null, "pmcid": null, "title": "A hyperpigmented perianal nodule", "firstAuthor": "Kahn", "multipleAuthors": true, "journal": "Dermatol Online J", "year": 2013, "design": "case-series", "n": 1, "nField": "reported", "population": "a patient with a perianal skin nodule, found during a routine colonoscopy", "intervention": "none (diagnostic evaluation of the nodule)", "comparator": "not applicable", "primaryOutcome": "diagnosis of the perianal nodule", "result": "the nodule was identified as a basal cell carcinoma", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common this cause is or how it compares to other causes.", "directness": "direct", "limitations": "only one patient described, no treatment or outcome follow-up reported", "followUp": "", "plainFinding": "Bump was skin cancer (BCC).", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/24011278/", "sourceText": "Basal cell carcinoma (BCC) is the most common cutaneous malignancy. Ultraviolet light is an important risk factor for the pathogenesis of BCCs; the vast majority are found in sun-exposed areas. BCCs occurring in the perianal or genital regions are seldom seen. Less than 1% of all BCCs occur at these sites. Etiologic factors other than solar exposure must be taken into account for such cases. We report a rare case of BCC that was initially detected during a routine colonoscopy.", "provenance": [ { "field": "population", "quote": "We report a rare case of BCC that was initially detected during a routine colonoscopy." }, { "field": "intervention", "quote": "initially detected during a routine colonoscopy" }, { "field": "comparator", "quote": "We report a rare case of BCC that was initially detected during a routine colonoscopy." }, { "field": "primaryOutcome", "quote": "We report a rare case of BCC" }, { "field": "result", "quote": "We report a rare case of BCC that was initially detected during a routine colonoscopy." }, { "field": "n", "quote": "We report a rare case of BCC" } ] }, { "id": "pmid:23913265", "pmid": "23913265", "doi": "10.1007/s00383-013-3363-z", "nctId": null, "pmcid": null, "title": "Müllerian-type, cutaneous ciliated cyst in the gluteal cleft mimicking a pilonidal cyst", "firstAuthor": "Oh", "multipleAuthors": true, "journal": "Pediatr Surg Int", "year": 2014, "design": "case-series", "n": 1, "nField": "reported", "population": "a 13-year-old female with a lump in the gluteal cleft", "intervention": "not applicable (case report describing diagnosis)", "comparator": "none", "primaryOutcome": "identifying the cause of the lump, initially thought to be a pilonidal cyst", "result": "the lump was found to be a rare Müllerian-type cutaneous ciliated cyst, not a pilonidal cyst", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single case report, so it cannot show how common this cause is or how it compares to other treatments.", "directness": "direct", "limitations": "only one patient; abstract gives no information on treatment or outcome after diagnosis.", "followUp": "", "plainFinding": "Rare cyst mimicked pilonidal cyst.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23913265/", "sourceText": "A cutaneous ciliated cyst is a rare entity found predominantly in the lower extremities and perineal region of young females. Although initially described by Hess in 1890, the present day term, \"cutaneous ciliated cyst,\" was proposed by Farmer in 1978 and includes a wide array of cyst types. Despite their typical female predominance and location, many have described cutaneous ciliated cysts in males and atypical locations. In addition, Mullerian cysts in the posterior mediastinum and the retroperitoneum have been reported. To date, only 40 cases have been reported in the literature of a Mullerian-type, cutaneous ciliated cyst. Here, we report a case of 13-year-old female with one in the gluteal cleft, initially presenting as a pilonidal cyst. We also discuss the differential diagnosis of pediatric sacrococcygeal lesions and pathogenesis of a Mullerian-type, cutaneous ciliated cyst.", "provenance": [ { "field": "n", "quote": "a case of 13-year-old female" }, { "field": "population", "quote": "a case of 13-year-old female with one in the gluteal cleft" }, { "field": "intervention", "quote": "initially presenting as a pilonidal cyst" }, { "field": "result", "quote": "Here, we report a case of 13-year-old female with one in the gluteal cleft, initially presenting as a pilonidal cyst" }, { "field": "primaryOutcome", "quote": "We also discuss the differential diagnosis of pediatric sacrococcygeal lesions and pathogenesis of a Mullerian-type, cutaneous ciliated cyst." }, { "field": "comparator", "quote": "initially presenting as a pilonidal cyst" } ] }, { "id": "pmid:23790792", "pmid": "23790792", "doi": null, "nctId": null, "pmcid": null, "title": "Problems of diagnosis and treatment caused by ingested foreign bodies", "firstAuthor": "Mesina", "multipleAuthors": true, "journal": "Chirurgia (Bucur)", "year": 2013, "design": "case-series", "n": 4, "nField": "reported", "population": "a 52-year-old female presented with left buttock painful swelling for 1 week associated with fever", "intervention": "During incision and drainage a 3 cm chicken bone was found inside the abscess cavity.", "comparator": "", "primaryOutcome": "Evolution was favorable in all 4 cases.", "result": "physical examination revealed an ischiorectal abscess.During incision and drainage a 3 cm chicken bone was found inside the abscess cavity.", "resultDirection": "benefit", "quality": "very-low", "qualityWhy": "this is a report of only four unusual cases with no comparison group, so it cannot show how common or typical this cause is.", "directness": "indirect", "limitations": "tiny case series of accidental foreign body ingestion, not a study of common causes of buttock or anal lumps", "followUp": "", "plainFinding": "Buttock lump from swallowed chicken bone.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23790792/", "sourceText": "An ingested foreign body often passes the gastrointestinal tract without any complications. Foreign bodies, such as fish bones, chicken bones and toothpicks, have been known to cause perforation of the gastrointestinal tract. We present 4 cases: the first 2 of a 27-year-old male and a 48-years-old female respectively, with acute abdomen, diffuse purulent peritonitis, with ileum perforation, both caused by accidentally ingesting a wire, 1 case of a 64-year-old male with sigmoid perforation, caused by accidentally ingesting a toothpick and 1 case of a 52-year-old female presented with left buttock painful swelling for 1 week associated with fever,physical examination revealed an ischiorectal abscess.During incision and drainage a 3 cm chicken bone was found inside the abscess cavity. Evolution was favorable in all 4 cases.", "provenance": [ { "field": "n", "quote": "We present 4 cases" }, { "field": "population", "quote": "a 52-year-old female presented with left buttock painful swelling for 1 week associated with fever" }, { "field": "intervention", "quote": "During incision and drainage a 3 cm chicken bone was found inside the abscess cavity." }, { "field": "primaryOutcome", "quote": "Evolution was favorable in all 4 cases." }, { "field": "result", "quote": "physical examination revealed an ischiorectal abscess.During incision and drainage a 3 cm chicken bone was found inside the abscess cavity." } ] }, { "id": "pmid:23617486", "pmid": "23617486", "doi": "10.2214/AJR.12.8813", "nctId": null, "pmcid": null, "title": "Chronic anal and perianal pain resolved with MRI", "firstAuthor": "Dwarkasing", "multipleAuthors": true, "journal": "AJR Am J Roentgenol", "year": 2013, "design": "retrospective", "n": 103, "nField": "reported", "population": "patients with chronic anal and perianal pain without a clear diagnosis after clinical work-up", "intervention": "MRI scan of the anus and rectum", "comparator": "clinical follow-up and later diagnosis (no imaging-based comparison group)", "primaryOutcome": "whether MRI findings explained the cause of the pain, confirmed by follow-up", "result": "MRI showed abnormalities that were confirmed as the final diagnosis in 39% of patients, mostly abscess-type lesions or scarring", "resultDirection": "unclear", "quality": "low", "qualityWhy": "this is a single-center diagnostic study without a control group or randomization, so it shows MRI can sometimes find a cause but doesn't test whether any treatment works", "directness": "indirect", "limitations": "no comparison group, single tertiary referral center, and most patients still had no explanation found on MRI", "followUp": "", "plainFinding": "MRI found a cause in some cases", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23617486/", "sourceText": "OBJECTIVE: The purpose of this study was to assess the diagnostic value of anorectal MRI in the care of patients with chronic anal and perianal pain but without findings of abnormalities in the clinical workup. MATERIALS AND METHODS: Patients referred from a tertiary department of colorectal surgery to the MRI unit with clinically occult chronic anal and perianal pain were included. MRI of the anorectum was performed with an endoanal or pelvic phased-array coil. The images from all examinations were read by two radiologists. MRI findings were correlated with clinical follow-up data. RESULTS: The study group (103 patients) was stratified into patients with no history of anorectal disease (n = 60) and those who had a history of surgery for anorectal disease (n = 43). MRI findings suggested the final diagnoses in 40 patients (39%). These diagnoses were 28 cases of suppurative lesions (27%), 11 cases of painful scarring of the anus (11%), and one case of metastasis to the sacrum (1%). Suppurative lesions were surgically proved with marked relief of pain after surgery. In the other patients the final diagnoses were 37 cases of levator ani syndrome (36%) and 26 cases of unspecified functional anorectal pain (25%). No MRI abnormalities were found in 33 of the patients with levator ani syndrome and 26 of the patients with unspecified anorectal pain. The two readers had very good agreement (κ = 0.92). The patients with a history of anorectal disease had significantly more MRI findings of abnormalities (60%) than did patients without a history of anorectal disease (23%). The positive predictive value of MRI was 91%, and the negative predictive value was 100%. CONCLUSION: In 39% of patients, MRI showed abnormalities that were clinically confirmed as the final diagnosis. Surgical treatment will especially benefit patients with suppurative lesions, resulting in relief of pain.", "provenance": [ { "field": "population", "quote": "Patients referred from a tertiary department of colorectal surgery to the MRI unit with clinically occult chronic anal and perianal pain were included." }, { "field": "intervention", "quote": "MRI of the anorectum was performed with an endoanal or pelvic phased-array coil." }, { "field": "comparator", "quote": "MRI findings were correlated with clinical follow-up data." }, { "field": "primaryOutcome", "quote": "The purpose of this study was to assess the diagnostic value of anorectal MRI in the care of patients with chronic anal and perianal pain but without findings of abnormalities in the clinical workup." }, { "field": "result", "quote": "MRI findings suggested the final diagnoses in 40 patients (39%)." }, { "field": "n", "quote": "The study group (103 patients) was stratified into patients with no history of anorectal disease (n = 60) and those who had a history of surgery for anorectal disease (n = 43)." } ] }, { "id": "pmid:23599161", "pmid": "23599161", "doi": "10.1038/modpathol.2013.75", "nctId": null, "pmcid": null, "title": "Clinicopathological analysis of basal cell carcinoma of the anal region and its distinction from basaloid squamous cell carcinoma", "firstAuthor": "Patil", "multipleAuthors": true, "journal": "Mod Pathol", "year": 2013, "design": "case-series", "n": 24, "nField": "reported", "population": "patients with basal cell carcinoma or basaloid squamous cell carcinoma of the anal region", "intervention": "histological review and immunostaining (Ber-EP4, BCL2, TP63, CK5/6, CDKN2A, SOX2) of tumor samples", "comparator": "basal cell carcinoma compared with basaloid squamous cell carcinoma of the anus", "primaryOutcome": "features that help tell the two anal cancer types apart", "result": "perianal location, retraction artifact, lack of atypical mitoses, and specific immunostain patterns (Ber-EP4/BCL2 vs CDKN2A/SOX2) distinguished basal cell carcinoma from basaloid squamous cell carcinoma", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a small retrospective review of only 24 rare tumor samples looking at lab features, not a treatment or outcome study.", "directness": "indirect", "limitations": "Small sample size (9 vs 15 cases), retrospective, single-institution pathology review with no patient outcomes reported.", "followUp": "", "plainFinding": "Lab tests distinguish two rare anal cancers.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23599161/", "sourceText": "Basal cell carcinoma of the anal region is rare and morphologically difficult to distinguish from basaloid squamous cell carcinoma, particularly on biopsies. This distinction has therapeutic and prognostic implications. We reviewed morphological features of 9 basal cell carcinomas and 15 basaloid squamous cell carcinomas from the anal region diagnosed during 1993-2011 and determined the utility of Ber-EP4, BCL2, TP63, CK5/6, CDKN2A, and SOX2 as diagnostic tools. Immunostains were scored in a semi-quantitative manner (1+-1-10%, 2+-11-50%, 3+->50%). All basal cell carcinomas were located in the perianal region, while all basaloid squamous cell carcinomas originated in the anal canal/anorectum. Nodular subtype of basal cell carcinoma was the most common subtype. Retraction artifact was the only significant distinguishing histological feature of basal cell carcinoma compared with basaloid squamous cell carcinoma (88% vs 26%; P=0.04). Atypical mitoses were more common in basaloid squamous cell carcinomas (71% vs 11%; P=0.05). An in situ component was only present in basaloid squamous cell carcinomas, and was noted in 6/15 cases. Basal cell carcinomas had 2-3+ Ber-EP4 (basal cell carcinoma 100% vs basaloid squamous cell carcinoma 40%; P<0.001) and BCL2 immunoreactivity (basal cell carcinomas 100% vs basaloid squamous cell carcinoma 33%; P<0.001). Diffuse CDKN2A and SOX2 expression was seen only in basaloid squamous cell carcinomas (basal cell carcinoma 0% vs basaloid squamous cell carcinoma 93%; P<0.001). There was no difference in TP63 and CK5/6 expression. Perianal location, retraction artifact, and lack of atypical mitoses are histological features that help distinguish basal cell carcinoma from basaloid squamous cell carcinoma. An in situ component, when present, supports the diagnosis of basaloid squamous cell carcinoma. Immunostains are extremely helpful as diffuse Ber-EP4 and BCL2 expression is a feature of basal cell carcinoma and basaloid squamous cell carcinoma is typified by diffuse CDKN2A and SOX2 expression.", "provenance": [ { "field": "n", "quote": "We reviewed morphological features of 9 basal cell carcinomas and 15 basaloid squamous cell carcinomas from the anal region" }, { "field": "population", "quote": "Basal cell carcinoma of the anal region is rare and morphologically difficult to distinguish from basaloid squamous cell carcinoma" }, { "field": "intervention", "quote": "determined the utility of Ber-EP4, BCL2, TP63, CK5/6, CDKN2A, and SOX2 as diagnostic tools" }, { "field": "comparator", "quote": "We reviewed morphological features of 9 basal cell carcinomas and 15 basaloid squamous cell carcinomas from the anal region diagnosed during 1993-2011" }, { "field": "primaryOutcome", "quote": "This distinction has therapeutic and prognostic implications." }, { "field": "result", "quote": "Perianal location, retraction artifact, and lack of atypical mitoses are histological features that help distinguish basal cell carcinoma from basaloid squamous cell carcinoma." }, { "field": "result", "quote": "Immunostains are extremely helpful as diffuse Ber-EP4 and BCL2 expression is a feature of basal cell carcinoma and basaloid squamous cell carcinoma is typified by diffuse CDKN2A and SOX2 expression." } ] }, { "id": "pmid:23531415", "pmid": "23531415", "doi": "10.1186/1746-1596-8-49", "nctId": null, "pmcid": "PMC3621362", "title": "Anal phyllodes tumor in a male patient: a unique case presentation and literature review", "firstAuthor": "Ho", "multipleAuthors": true, "journal": "Diagn Pathol", "year": 2013, "design": "case-series", "n": 1, "nField": "reported", "population": "41-year-old man with anal bleeding", "intervention": "no treatment tested; tumor removed surgically (papillectomy) and examined", "comparator": "none", "primaryOutcome": "type and nature of the anal tumor", "result": "found to be a rare benign phyllodes tumor of anogenital mammary-like glands with gynecomastia-like tissue nearby", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, so it cannot show how common this is or how it compares to other causes of a bump.", "directness": "direct", "limitations": "Only one patient was studied, and this condition is described as extremely rare, so findings may not generalize.", "followUp": "", "plainFinding": "Rare benign tumor found, not cancer.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23531415/", "sourceText": "UNLABELLED: Lesions of anogenital mammary-like glands are rare, and only 44 female cases have been reported. Herein, we describe a particularly rare case of phyllodes tumor of anogenital mammary-like glands in a 41-year-old male presenting anal bleeding. Papillectomy was performed. The excised tumor was circumscribed in shape, and after it was sliced into sections, it was noted that there were leaf-like slits on the surface of cut side. Under the microscope, the tumor was found to be biphasic, with a bland glandular epithelium and low-to-intermediate cellular stroma, which together created the leaf-like slits. Gynecomastoid hyperplasia was evident at the periphery. The epithelium showed immuno-activity for ER, PR(focal), AR, and GCDFP-15. The stromal cells showed positive staining for CD34 and vimentin. The morphology and immunophenotype were similar to benign phyllodes tumors of breast. To the best of our knowledge, this case report represents the first case of phyllodes tumor of anogenital mammary-like glands with gynecomastoid hyperplasia at the periphery in a male patient. To make a diagnosis, we had to differentiate this lesion from hidradenoma papilliferum of skin appendage, phyllodes tumor of ectopic prostatic tissue, and other tumors of anogenital mammary-like glands analogous to the breast tumor (e.g., fibroadenoma phyllodes, periductal stromal sarcoma, and spindle cell carcinoma). While gynecomastia of male breast is usually a result of hormone imbalance, our patient's tumor did not seem to be related to peripheral hormone status in the anogenital mammary-like glands. Nevertheless, because hormone imbalance has been strongly related to male breast cancer, hormone levels may need to be followed in male patients who have this rare malady. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1509145815899177.", "provenance": [ { "field": "population", "quote": "a 41-year-old male presenting anal bleeding" }, { "field": "intervention", "quote": "Papillectomy was performed." }, { "field": "primaryOutcome", "quote": "The excised tumor was circumscribed in shape, and after it was sliced into sections, it was noted that there were leaf-like slits on the surface of cut side." }, { "field": "result", "quote": "this case report represents the first case of phyllodes tumor of anogenital mammary-like glands with gynecomastoid hyperplasia at the periphery in a male patient" }, { "field": "n", "quote": "a 41-year-old male presenting anal bleeding" }, { "field": "comparator", "quote": "Papillectomy was performed." } ] }, { "id": "pmid:23268160", "pmid": "23268160", "doi": null, "nctId": null, "pmcid": null, "title": "Clinics in diagnostic imaging (143). Perianal mucinous adenocarcinoma arising from chronic fistula-in-ano", "firstAuthor": "Ho", "multipleAuthors": true, "journal": "Singapore Med J", "year": 2012, "design": "case-series", "n": 1, "nField": "reported", "population": "43-year-old man with long-standing anal fistula and recurrent perianal pain and bleeding", "intervention": "MRI and CT imaging to diagnose the growth, followed by surgical removal of the tumour", "comparator": "none", "primaryOutcome": "correct identification of the type of tumour using imaging, and outcome after surgery", "result": "imaging correctly showed a rare cancer (mucinous adenocarcinoma) arising from the chronic fistula; the man died after surgery due to complications", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show whether any treatment works in general.", "directness": "indirect", "limitations": "only one patient; no comparison group; author's note that literature on this imaging appearance is scarce; patient died of surgical complications", "followUp": "", "plainFinding": "", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23268160/", "sourceText": "We report a case of mucinous adenocarcinoma arising in the perianal soft tissue in association with chronic fistula-in-ano in a 43-year-old man who had a relapse of perianal pain and bloody discharge after six years of defaulted follow-up. He underwent magnetic resonance (MR) and computed tomography imaging with correct identification of the disease entity on imaging. Mesh-like septations and an enhancing solid component with high diffusion-weighted imaging (DWI) and intermediate apparent diffusion coefficient signals were observed. He underwent abdominoperineal resection of the tumour but succumbed due to postoperative complications. Literature on the MR imaging features of this tumour remains scarce. We highlight the MR imaging features, including those seen on DWI, which were useful in making the correct diagnosis. Though uncommon, this would be an important condition to recognise since assessment of fistula-in-ano by MR imaging is considered to be the standard of care in current clinical practice. The clinical features of this entity are also briefly discussed.", "provenance": [ { "field": "n", "quote": "a 43-year-old man" }, { "field": "population", "quote": "a 43-year-old man who had a relapse of perianal pain and bloody discharge after six years of defaulted follow-up" }, { "field": "intervention", "quote": "He underwent magnetic resonance (MR) and computed tomography imaging with correct identification of the disease entity on imaging." }, { "field": "comparator", "quote": "We report a case of mucinous adenocarcinoma arising in the perianal soft tissue in association with chronic fistula-in-ano" }, { "field": "primaryOutcome", "quote": "correct identification of the disease entity on imaging" }, { "field": "result", "quote": "He underwent abdominoperineal resection of the tumour but succumbed due to postoperative complications." } ] }, { "id": "pmid:23175339", "pmid": "23175339", "doi": "10.5604/17322693.1019537", "nctId": null, "pmcid": null, "title": "Utility of transperineal and anal ultrasonography in the diagnostics of hidradenitis suppurativa and its differentiation from a rectal fistula", "firstAuthor": "Kołodziejczak", "multipleAuthors": true, "journal": "Postepy Hig Med Dosw (Online)", "year": 2012, "design": "retrospective", "n": 51, "nField": "reported", "population": "patients who had surgery for hidradenitis suppurativa near the anus and perineum", "intervention": "transperineal and anal ultrasound imaging before surgery", "comparator": "findings seen during the actual surgery", "primaryOutcome": "how well ultrasound matched what was found during surgery, including telling hidradenitis suppurativa apart from an anal fistula", "result": "ultrasound findings matched surgical findings in 66 of 67 operations (98.5%), and also detected a fistula coexisting with the condition in 6 cases and skin cancer in 2 cases", "resultDirection": "benefit", "quality": "low", "qualityWhy": "this was a retrospective look-back at one hospital's records without blinding or a separate comparison test, so the results may not hold up elsewhere.", "directness": "indirect", "limitations": "retrospective design, single center, no mention of blinded assessment of ultrasound images against surgical findings", "followUp": "", "plainFinding": "Ultrasound reliably identified the lump's cause.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23175339/", "sourceText": "INTRODUCTION: The pathogenesis of hidradenitis suppurativa (HS) is not fully understood. There exist several theories, in which mechanical factors, genetic factors, as well as immunological dysfunction of lymphocytes are suspected. Clinically, this entity is frequently mistaken for anal fistula with consequently wrong treatment. We aim to determine the utility of transperineal ultrasound (TPUS) and anal ultrasound (AUS) in the diagnosis of HS and its differentiation from an anal fistula. MATERIAL/METHODS: Retrospective analysis was performed on 51 patients (5 females, 46 males) aged 20-71 years (mean age 47.5), who were operated on in the years 2006-2011 for HS in the area of the anus and perineum, and pre-operatively had been imaged with TPUS and AUS. Sixty-seven operations were analyzed, as 11 patients were operated on more than once due to HS recurrence. RESULTS: In 66 out of 67 cases (98.5%), the pre-operative TPUS and AUS were in accordance with the intraoperative findings. Only in 1 patient was a pilonidal cyst diagnosed intraoperatively. In all 67 patients, the TPUS showed typical fluid-solid changes localized in the subcutaneous adipose tissue. In 6 out of 67 cases of HS (8.9%) AUS showed an anal fistula coexisting with the HS. In 2 cases (2.9%) a skin malignancy coexisting with HS was found. DISCUSSION: TPUS is an accessible imaging method, which confirms the typical localization of changes of HS, and together with AUS it allows for the proper differentiation of HS from an anal fistula or an abscess.", "provenance": [ { "field": "n", "quote": "Retrospective analysis was performed on 51 patients (5 females, 46 males) aged 20-71 years" }, { "field": "population", "quote": "who were operated on in the years 2006-2011 for HS in the area of the anus and perineum, and pre-operatively had been imaged with TPUS and AUS" }, { "field": "intervention", "quote": "transperineal ultrasound (TPUS) and anal ultrasound (AUS)" }, { "field": "comparator", "quote": "the pre-operative TPUS and AUS were in accordance with the intraoperative findings" }, { "field": "primaryOutcome", "quote": "We aim to determine the utility of transperineal ultrasound (TPUS) and anal ultrasound (AUS) in the diagnosis of HS and its differentiation from an anal fistula." }, { "field": "result", "quote": "In 66 out of 67 cases (98.5%), the pre-operative TPUS and AUS were in accordance with the intraoperative findings." } ] }, { "id": "pmid:23050944", "pmid": "23050944", "doi": "10.1111/j.1742-481X.2012.01096.x", "nctId": null, "pmcid": "PMC7950348", "title": "Squamous cell carcinoma arising from pilonidal sinus", "firstAuthor": "Pandey", "multipleAuthors": true, "journal": "Int Wound J", "year": 2014, "design": "case-series", "n": 1, "nField": "reported", "population": "person with long-standing pilonidal sinus (a chronic sinus near the tailbone)", "intervention": "none described (observation of disease course)", "comparator": "none", "primaryOutcome": "development of squamous cell carcinoma (skin cancer) in a chronic pilonidal sinus", "result": "the chronic pilonidal sinus had turned into squamous cell carcinoma", "resultDirection": "harm", "quality": "very-low", "qualityWhy": "this is a single patient case report, so it cannot show how common or likely this outcome is for others.", "directness": "direct", "limitations": "single case report with no comparison group or treatment outcome data", "followUp": "", "plainFinding": "Rare cancer from long-standing pilonidal sinus.", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/23050944/", "sourceText": "Pilonidal sinus is usually present in the sacrococcygeal region. The common presentations are cellulitis, abscess or sinus. Rarely malignant change may be seen in chronic pilonidal sinus. We report a case of chronic pilonidal sinus complicated with squamous cell carcinoma.", "provenance": [ { "field": "n", "quote": "We report a case of chronic pilonidal sinus complicated with squamous cell carcinoma." }, { "field": "population", "quote": "Pilonidal sinus is usually present in the sacrococcygeal region." }, { "field": "intervention", "quote": "We report a case of chronic pilonidal sinus complicated with squamous cell carcinoma." }, { "field": "comparator", "quote": "We report a case of chronic pilonidal sinus complicated with squamous cell carcinoma." }, { "field": "primaryOutcome", "quote": "Rarely malignant change may be seen in chronic pilonidal sinus." }, { "field": "result", "quote": "We report a case of chronic pilonidal sinus complicated with squamous cell carcinoma." } ] }, { "id": "pmid:22996249", "pmid": "22996249", "doi": "10.1097/RLU.0b013e318266cea2", "nctId": null, "pmcid": null, "title": "The 18F-FDG PET/CT finding of a condyloma acuminata mimicking primary anorectal carcinoma in an HIV-infected patient", "firstAuthor": "Kim", "multipleAuthors": false, "journal": "Clin Nucl Med", "year": 2013, "design": "case-series", "n": 1, "nField": "reported", "population": "44-year-old HIV-positive man with history of lymphoma", "intervention": "PET/CT imaging with surgical excision and pathology", "comparator": "none", "primaryOutcome": "whether the anorectal lesion was cancer or something else", "result": "The bump turned out to be a wart (condyloma acuminata), not cancer, despite looking like a tumor on the scan", "resultDirection": "unclear", "quality": "very-low", "qualityWhy": "This is a single patient case report, which cannot show what usually causes anal bumps.", "directness": "indirect", "limitations": "Only one patient; findings may not generalize to others with anal bumps.", "followUp": "", "plainFinding": "Anal wart mistaken for cancer", "retracted": false, "expressionOfConcern": false, "hasErratum": false, "url": "https://pubmed.ncbi.nlm.nih.gov/22996249/", "sourceText": "This case report describes a condyloma acuminata with intense FDG uptake mimicking primary anorectal carcinoma in an HIV-infected patient.A 44-year-old HIV-positive homosexual man with a history of lymphoma underwent an 18F-FDG PET/CT for restaging. A focal intense hypermetabolic lesion around the anorectal area was found by the PET/CT and it was suggested as a tumorous lesion. However, the lesion was not detected on the contrast-enhanced abdominal CT. Via a sigmoidoscopy, cauliflower-like masses were visualized in the intra-anal area. The tumor was surgically excised and proven to be condyloma acuminata by permanent pathology.", "provenance": [ { "field": "n", "quote": "A 44-year-old HIV-positive homosexual man with a history of lymphoma underwent an 18F-FDG PET/CT for restaging" }, { "field": "population", "quote": "A 44-year-old HIV-positive homosexual man with a history of lymphoma" }, { "field": "intervention", "quote": "The tumor was surgically excised and proven to be condyloma acuminata by permanent pathology" }, { "field": "comparator", "quote": "the lesion was not detected on the contrast-enhanced abdominal CT" }, { "field": "primaryOutcome", "quote": "it was suggested as a tumorous lesion" }, { "field": "result", "quote": "the lesion was not detected on the contrast-enhanced abdominal CT. Via a sigmoidoscopy, cauliflower-like masses were visualized in the intra-anal area. The tumor was surgically excised and proven to be condyloma acuminata by permanent pathology." } ] } ], "faqs": [ { "q": "Why is there a bump on my butthole or in my butt crack?", "a": "Most bumps in this area are common and treatable things like hemorrhoids, skin tags, folliculitis (an irritated hair follicle), or a pilonidal cyst near the tailbone. The research on this exact question is very limited — mostly single-patient case reports — but it also shows that occasionally a similar-looking bump turns out to be something more serious, like an infection or a growth that needs different treatment. A doctor can usually tell these apart with an exam." }, { "q": "What does it mean if you have a small bump at the top of your butt crack?", "a": "A bump right at the top of the buttock crease, near the tailbone, is a classic location for a pilonidal cyst — a small pocket that can form around a hair follicle and sometimes becomes infected. Case reports also describe rarer look-alikes in this exact spot, so a bump that keeps coming back or becomes painful is worth having looked at rather than assumed." }, { "q": "Why do I keep getting bumps on my butt?", "a": "Recurring bumps are often described in case reports as pilonidal disease, hidradenitis suppurativa (a condition causing recurring boil-like lumps), or folliculitis. No study in this review measured how often each cause leads to repeat bumps, so there's no reliable number to give you — but a pattern of repeat bumps in the same spot is a good reason to get a diagnosis rather than keep treating each one as new." }, { "q": "Why do I have bumps on my inner butt cheeks?", "a": "Bumps on the buttock skin itself, rather than right at the anus, are more often related to irritated hair follicles, skin infections, or cysts than to anal conditions like hemorrhoids. This review didn't find a study that sorted out causes specifically by location on the buttock, so this answer is based on how these conditions are generally described rather than a dedicated study." }, { "q": "How do I get rid of a bump on my butt — and when should I see a doctor instead of waiting?", "a": "What gets rid of a bump depends entirely on what's causing it, and no study has tested one treatment against another for an undiagnosed bump — so there's no single answer here. Given that case reports in this review describe serious conditions (including cancer and severe infection) that were first mistaken for an ordinary bump, see a doctor rather than self-treat if yours is new, growing, bleeding, very painful, or hasn't improved after a couple of weeks." } ], "searchedAs": [ "why is there a bump on my butthole", "why do i have a bump on my butt crack", "why is there a bump at the top of my bum crack", "why do i have a bump on my butt hole", "why do i keep getting bumps on my butt", "why do i have bumps on my inner butt cheeks", "what does it mean if you have a small bump at the top of your butt crack", "how to get rid of bump on butt" ], "patientTakeaway": "Most bumps near the anus or in the buttock crease turn out to be something common and treatable, like a hemorrhoid, skin tag, or pilonidal cyst. But the research on this topic is thin and made up mostly of individual case reports, some of which describe serious conditions — like cancer or severe infection — that were initially mistaken for one of these common bumps. See a doctor for an exam if your bump is new, growing, bleeding, painful, or not going away; that exam, not guesswork, is what actually tells these apart.", "methodology": { "databases": [ "PubMed", "ClinicalTrials.gov", "Crossref" ], "searchStrings": { "pubmed": "(\"Hemorrhoids\"[Mesh] OR \"Skin Tags\"[tiab] OR \"Pilonidal Sinus\"[Mesh] OR \"Condylomata Acuminata\"[Mesh] OR \"Anus Diseases\"[Mesh] OR \"Rectal Fistula\"[Mesh]) AND (\"Diagnosis, Differential\"[Mesh] OR \"differential diagnosis\"[tiab]) AND (perianal[tiab] OR anal[tiab] OR gluteal[tiab] OR buttock[tiab] OR \"natal cleft\"[tiab])" }, "pubmedQueryTranslation": "(\"Hemorrhoids\"[MeSH Terms] OR \"Skin Tags\"[Title/Abstract] OR \"Pilonidal Sinus\"[MeSH Terms] OR \"Condylomata Acuminata\"[MeSH Terms] OR \"Anus Diseases\"[MeSH Terms] OR \"Rectal Fistula\"[MeSH Terms]) AND (\"diagnosis, differential\"[MeSH Terms] OR \"differential diagnosis\"[Title/Abstract]) AND (\"perianal\"[Title/Abstract] OR \"anal\"[Title/Abstract] OR \"gluteal\"[Title/Abstract] OR \"buttock\"[Title/Abstract] OR \"natal cleft\"[Title/Abstract])", "searchedOn": "2026-10-13", "inclusion": [ "Human, animal or laboratory studies reporting an outcome relevant to the question" ], "exclusion": [ "Records about a different condition or intervention", "Records reporting no outcome", "Retracted publications, which are listed but excluded from every count" ], "extractionLevel": "abstract", "gradingNote": "Evidence strength is adapted from the GRADE framework. It is not a GRADE assessment and was not produced by a GRADE panel.", "limits": [ "Fields were read from abstracts, not full text, so detail reported only in a paper's methods section is not captured." ] }, "seo": { "title": "Why is there a bump on my butt or anus?", "description": "133 studies—mostly case reports—on bumps near the anus: common causes, and when a lump turns out to be something serious." }, "lastChecked": "2026-10-13", "lastChanged": "2026-10-13", "nextCheckDue": "2026-11-13", "history": [], "pipeline": { "screenModel": "claude-haiku-4-5", "extractModel": "claude-sonnet-5", "composeModel": "claude-sonnet-5", "promptVersion": "ev-1", "ranOn": "2026-10-13" }, "status": "published" }