Dystrophic Epidermolysis Bullosa

Abstract

Trauma-induced subepidermal blistering with milia formation, atrophic scarring, and dystrophic nail involvement are cutaneous hallmarks of dystrophic EB (DEB). Severe clinical phenotypes are further complicated by mutilating pseudosyndactyly of hands and feet with contractures and progressive disablement. While in dominant DEB extracutaneous manifestations other than esophageal involvement are rather uncommon, multisystemic disease, involving, e.g., gastrointestinal and genitourinary tract, is frequent in the generalized variants of recessive DEB and causes significant morbidity. The dramatically increased risk for early development of highly aggressive squamous cell carcinomas requires rigorous monitoring, especially in generalized severe RDEB (RDEB-gen sev).