Junctional epidermolysis bullosa and pyloric atresia in two siblings.
Pyloric atresia is a rare disorder that has been seen in association with epidermolysis bullosa. Two male siblings with pyloric atresia and the junctional form of epidermolysis bullosa, confirmed by electron microscopy, are described herein. These cases strengthen the relationship between junctional epidermolysis bullosa and pyloric atresia, which are probably transmitted together in an autosomal-recessive pattern.
D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011708:Pylorus / Q000002:abnormalities*; D012867:Skin / Q000473:pathology