A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

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TL;DR

This case report describes a 22-year-old male with recessive dystrophic epidermolysis bullosa (RDEB) who developed colitis, a rare gastrointestinal complication. The patient presented with hematochezia, and after ruling out infectious causes, flexible sigmoidoscopy confirmed moderately active colitis. Treatment with mesalamine and budesonide led to resolution of symptoms, highlighting the need for awareness and further research on EB-associated colitis.

Full summary

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**Background:** Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by mutations in the COL7A1 gene, leading to severe skin fragility and blistering. Gastrointestinal complications such as esophageal strictures, gastroesophageal reflux, constipation, and undernutrition are common, but colitis is rarely reported. This case highlights the diagnostic challenges and management of EB-associated colitis.

**Methods:** This is a case report of a 22-year-old nonambulatory male with genetically confirmed RDEB (compound heterozygous COL7A1 variants) who presented with several weeks of watery diarrhea progressing to hematochezia. He had a history of constipation, esophageal strictures requiring dilation, and enteral nutrition via gastrostomy. Prior to the first episode, he was treated with Cephalexin for cellulitis, then switched to levofloxacin after skin cultures grew Pseudomonas sp. Stool studies for Clostridium difficile, ova/parasites, and bacterial cultures were negative. He was empirically treated with enteral budesonide (6 mg daily for 14 days) and symptoms resolved. Approximately 3.5 months later, hematochezia recurred without antibiotic use. Budesonide (9 mg daily) was restarted without improvement. Flexible sigmoidoscopy was performed, and rectosigmoid biopsies were taken.

**Key Results:** Flexible sigmoidoscopy revealed diffusely granular and erythematous colonic mucosa with loss of vascularity, consistent with colitis. Histological examination showed moderately active colitis with mixed lamina propria inflammation including prominent eosinophils and neutrophils, acute cryptitis, acute crypt abscesses, focal superficial karyorrhectic debris, and rare hemosiderin-laden macrophages. No epidermal clefting or separation was observed. Treatment with budesonide (9 mg daily) and mesalamine (1000 mg three times daily) led to resolution of hematochezia within 2 weeks. Budesonide was discontinued, and mesalamine was continued for maintenance. No recurrence was noted during 6 months of follow-up.

**Clinical Implications:** This case underscores the rarity of colitis in RDEB and the diagnostic challenges, including risks of anesthesia and skin damage from procedures. Serum inflammatory markers may be confounded by chronic inflammation from RDEB. The successful treatment with mesalamine and budesonide suggests that 5-aminosalicylates and corticosteroids can be effective, but evidence-based guidelines are lacking. Further research is needed to understand the pathophysiology, risk factors (including frequent antibiotic use and potential dysbiosis), and optimal management of EB-associated colitis.