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Junctional epidermolysis bullosa (JEB) is an autosomal recessive, clinically and genetically heterogeneous disorders (1). A variety of extracutaneous complications may also arise, including gastrointestinal and genito-urinary tract involvements (1, 2). Genito-urinary involvement is particularly common in JEB with congenital pyloric atresia (JEB-PA; MIM 226730) associated with germline mutations in ITGA6 and ITGB4,which encode the α6 and β4 integrin, respectively (2). Recent studies suggested that pylori atresia (PA) was not necessarily a feature of integrin-associated JEB, while urologic problems occur frequently (3, 4). Here, we report a Chinese case with mild ITGB4-associated JEB with profound urinary tract stenosis.

ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement