Abstract
A 7-year-old male presented to our outpatient pediatric dermatology clinic for enlarging perianal masses initially suspected to be warts. Family endorsed a 2-year history of generally poor growth but denied gastrointestinal symptoms at our initial visit. Physical examination revealed three fleshy, pedunculated, violaceous masses around the anal sphincter that were rubbery in texture. Pathology indicated inflammatory polyps and further investigations confirmed the diagnosis of anal skin tags secondary to highly active and severe Crohn’s disease. This case highlights the essential role of dermatologists in recognizing perianal masses as potential indicators of Crohn’s disease, even when classic gastrointestinal symptoms are initially absent, as these findings can enable timely diagnosis and management.
Case presentation
A 7-year-old male presented to our outpatient dermatology clinic with a 2-month history of suspected perianal warts. The perianal masses were occasionally tender after bowel movements, but the patient otherwise had normal stooling function with formed soft stools and no history of bleeding from the perianal area. The family denied any recent gastrointestinal symptoms including diarrhea, constipation, abdominal pain or cramping, blood or mucus in stools, rectal bleeding, urgency, nausea, vomiting, abscesses, or fistulas. However, the patient appeared thin and pale and had a 2-year history of generally poor growth, poor weight gain, and fatigue.
He had a limited past medical history aside from a duplicated ureter on the left side. He took no medications, had no allergies, and his immunizations were up to date. There was no family history of inflammatory bowel disease (IBD), no concerns for sexual abuse, and no history of human papillomavirus infection.
The physical examination revealed three fleshy, violaceous, pedunculated grape-like masses around the anal sphincter. They completely obstructed the anal opening during the clinical assessment. The masses were located at the 1 to 3 o’clock positions around the anus. The patient appeared thin and pale but had a normal general physical examination. There were no cutaneous warts. His weight was below the 3rd percentile, height was 10th percentile, and body mass index (BMI) was below the 3rd percentile.
The patient was referred urgently to pediatric gastroenterology and general surgery for a biopsy of these lesions (Figure 1).
Perianal anal skin tags secondary to severe Crohn’s disease: three fleshy, violaceous, pedunculated grape-like masses.
Laboratory values revealed microcytic anemia (hemoglobin 7.4 g/dL, hematocrit 31%, mean corpuscular volume 67 fL), thrombocytosis (platelet count 1,158,000/μL), and elevated inflammatory markers, including an erythrocyte sedimentation rate (ESR) of 49 mm/h and CRP of 99.8 mg/L. Serum albumin was low at 27 g/L, and fecal calprotectin was significantly elevated at 4480 μg/g.
Digital rectal examination, performed by a pediatric surgeon, revealed normal anal sphincter tone, and no mass inside the rectum. The perianal lesions were confined to the mucosa, with no extension beyond the perianal area. Pathological analysis of the excised lesions demonstrated squamous polyps with patchy lymphocytic and granulomatous inflammation within the dermis, consistent with inflammatory polyps in the setting of Crohn’s disease (CD). At this time, in assessment with pediatric gastroenterology, the patient started to endorse some mild abdominal pain and decreased appetite.
Colonoscopy and esophagogastroduodenoscopy (EGD) with further biopsies confirmed that these polyps were anal skin tags (ASTs) in Crohn’s-type IBD with perianal involvement. Imaging, including bowel ultrasound and pelvic magnetic resonance imaging, revealed marked bowel wall thickening in the proximal and descending colon, patchy disease in the transverse colon, and a 25 cm segment of inflammation and stricturing in the distal colon. Ultimately, the patient was diagnosed with CD and an initial Pediatric Crohn’s Disease Activity index score of 57.3, indicating highly active and severe disease. The patient received treatment with IV infliximab and iron infusions. This led to significant improvement in energy and weight gain within 2 months, raising his BMI to the 15th percentile.
Discussion
This case illustrates an atypical initial presentation of pediatric CD with perianal polyps and poor growth, but no prominent gastrointestinal symptoms initially.
A literature search was conducted to gather literature on cutaneous manifestations of pediatric CD. The search strategy for MEDLINE is detailed in Table 1 and was adapted for EMBASE.
Search strategy for MEDLINE.
When encountering perianal masses in pediatric patients, it is crucial to consider a broad differential diagnosis. The differential diagnosis for perianal masses in children includes AST secondary to CD, condyloma acuminata, sequelae of child abuse, malignant tumors, inflammatory pseudo polyps associated with IBD, condyloma lata of secondary syphilis, juvenile polyps, and perianal abscesses or fistulas.1–7
CD is a chronic IBD affecting any part of the gastrointestinal tract, often presenting with both intestinal and extraintestinal manifestations. 8 Perianal involvement is a manifestation of pediatric CD, presenting in various forms such as ASTs, fissures, abscesses, and fistulas.9–11
The incidence of perianal involvement in pediatric CD varies considerably, ranging from 13.6% and 62%.7,11 Afarideh et al. conducted an analysis revealing that perianal skin tags were present in 14.6% of children with IBD. 12 Perianal involvement is a predictor of poor prognosis in CD, indicating disease activity and associated with adverse outcomes on growth and psychosocial well-being.13–15
The presentation of this patient aligns closely with the findings of Bonheur et al. in their study on ASTs in IBD. 1 The perianal inflammatory polyps in our case are consistent with the type 1 “elephant ears” ASTs they detail. 1 The “fleshy, violaceous masses” with a “rubbery texture” and mucus covering correspond to the soft, compressible, and flesh-colored appearance typical of type 1 ASTs. 1 The three masses fit with the “single or multiple” and “varying sizes” characteristics of these lesions. 1 Despite their obstructive appearance, the patient maintained normal stooling function without bleeding, which is consistent with the often asymptomatic nature of even significant perianal lesions in CD. Bonheur et al. reported a significantly higher prevalence of ASTs in patients with CD (75.4%) compared to those with ulcerative colitis (24.6%), which is consistent with our patient’s eventual diagnosis. 1 Their study noted a trend toward a higher incidence of ASTs in patients with colitis, aligning with our patient’s confirmed perianal and colonic involvement. 1
Bellou et al. reported the case of a child presenting with type 1 “elephant ear” ASTs and growth impairment as signs of asymptomatic CD. 16 Patel et al. documented the evolution of the perianal lesions from skin-colored sessile papules to erythematous, macerated, pedunculated papules, resembling the AST progression observed in our patient. 17
This case aligns with previous literature highlighting the importance of recognizing perianal lesions as an indicator of pediatric CD. Mucocutaneous manifestations, especially oral and perianal, can precede prominent gastrointestinal symptoms in up to 15% of pediatric CD.7,18 Asymptomatic CD refers to cases where patients have evidence of intestinal inflammation or damage characteristic of CD, but lack noticeable symptoms and is estimated to affect 19%–57% of CD patients, depending on diagnostic criteria.19–23 Patients in clinical remission may still exhibit endoscopic or laboratory evidence of ongoing inflammation. 17 This case emphasizes the importance of dermatologists considering IBD in children presenting with unusual perianal lesions even in the absence of significant gastrointestinal symptoms.
Footnotes
Acknowledgements
We would like to express our sincere gratitude to Dr. Bryan J. Dicken, pediatric general surgeon, and Dr. Hien Huynh, pediatric gastroenterologist, for their invaluable contributions to the diagnosis and management of this case. Their expertise and collaboration were instrumental in the timely and effective care of the patient.
Data availability
The data underlying this article will be shared on reasonable request by the corresponding author.
Declaration of conflicting interests
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding
The author(s) received no financial support for the research, authorship, and/or publication of this article.
Ethics statement
Our institution does not require ethical approval for reporting individual cases or case series.
Patient consent to participate and for publication
The patient’s family provided written informed consent to participate and for publication.
