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Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course… Click to show full abstract
Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course is typically lethal in the first few weeks of life, with an overall mortality of nearly 80%.1 Mutations in ITGB4, ITGA6, and PLEC1, which encode hemidesmosome components β4 integrin, α6 integrin, and plectin, respectively, are most commonly implicated.
Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2019
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