Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB

Background: Epidermolysis bullosa with pyloric atresia (EB- PA) is an autosomal recessive disorder due to mutations in ITGA6 and/ or ITGB4, resulting in altered expression of alpha 6 beta 4 integrin. EB- PA can also occur with aplasia cutis. Case report: We present a newborn with EB- PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+ 1G> A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. Conclusion: The previously unreported homozygous c.3793+ 1G > A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.