Junctional epidermolysis bullosa 5B with pyloric atresia (JEB5B) is an autosomal recessive blistering disease of skin and mucous membranes. Severity of skin involvement ranges from extensive full thickness skin loss (aplasia cutis congenita) to mild epidermolysis bullosa that improves with age. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Pyloric atresia is usually evident within a few days to weeks of life. Atresia may occur at other gastrointestinal sites including the esophagus and duodenum. JEB5B is usually lethal within the first few weeks of life despite surgical correction of pyloric atresia. Milder, non-lethal forms with less skin blistering have been reported (summary by Has et al., 2020).

Reference
OMIM: Epidermolysis bullosa junctionalis with pyloric atresia