A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

JPGN Reports · 5 authors, 3 centres

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TL;DR

A 22-year-old male with recessive dystrophic epidermolysis bullosa developed recurrent hematochezia from EB-associated colitis confirmed by flexible sigmoidoscopy and rectosigmoid biopsy. Combination therapy with mesalamine and budesonide resolved symptoms, with no recurrence over 6 months of follow-up.

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This case report describes a 22-year-old nonambulatory male with genetically confirmed recessive dystrophic epidermolysis bullosa (RDEB) who presented with weeks of watery diarrhea progressing to hematochezia. Infectious workup including C. difficile, stool ova and parasites, and bacterial cultures was negative. The patient was treated with mesalamine 1000 mg three times daily and enteral budesonide 9 mg daily. No recurrence of diarrhea or hematochezia occurred during 6 months of follow-up on maintenance mesalamine.

STUDY TYPE

case_report

SPECIALTY

dermatology

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100% · A

ORIGINAL PAPER

PMC10187860

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

JPGN Reports

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ABSTRACT

Recessive dystrophic epidermolysis bullosa (EB) is a rare disease characterized by painful blistering and erosion of the skin, sometimes referred to as “butterfly skin disease” because patients’ skin becomes as fragile as butterfly wings. In addition to severe dermatologic manifestations, EB patients also experience complications affecting epithelial surfaces including the gastrointestinal tract. While gastrointestinal complications such as oral mucosal ulceration, esophageal strictures, constipation, and gastroesophageal reflux are common in EB patients, reports of colitis are rare. Here we describe a patient with recessive dystrophic EB who developed EB-associated colitis. This case highlights the diagnostic challenges as well as the gaps in our current understanding of the prevalence, pathogenesis, and treatment of EB-associated colitis.

CITATION EXPORT

Katelyn McCann, Karen Wiss, Jeffrey Covington et al.. A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis. JPGN Reports. (2023). https://doi.org/10.1097/PG9.0000000000000313

AUTHORS

5 · 3 CENTRES

Katelyn McCann, Karen Wiss, Jeffrey Covington, Vanessa Laffert, Kerri B. Gosselin

From the *Department of Pediatrics, UMass Chan Medical School, Worcester, MA
†Department of Dermatology, UMass Chan Medical School, Worcester, MA
‡Department of Pathology, UMass Chan Medical School, Worcester, MA.