McCann Katelyn, Wiss Karen, Covington Jeffrey, Laffert Vanessa, Gosselin Kerri B
From the Department of Pediatrics, UMass Chan Medical School, Worcester, MA.
Department of Dermatology, UMass Chan Medical School, Worcester, MA.
JPGN Rep. 2023 Apr 26;4(2):e313. doi: 10.1097/PG9.0000000000000313. eCollection 2023 May.
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.
隐性营养不良性大疱性表皮松解症（EB）是一种罕见疾病，其特征为皮肤出现疼痛性水疱和糜烂，有时被称为“蝴蝶皮肤病”，因为患者的皮肤变得像蝴蝶翅膀一样脆弱。除了严重的皮肤表现外，EB患者还会出现影响上皮表面的并发症，包括胃肠道。虽然口腔黏膜溃疡、食管狭窄、便秘和胃食管反流等胃肠道并发症在EB患者中很常见，但结肠炎的报道却很少。在此，我们描述了一名患有隐性营养不良性EB并发生EB相关性结肠炎的患者。该病例突出了诊断挑战以及我们目前对EB相关性结肠炎的患病率、发病机制和治疗的认识差距。
