Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings

Congenital localized absence of the skin has been observed in various subse ts of inherited epidermolyisis bullosa (EB). Pyloric atresia is a rare diso rder that has been seen in association with EB. Ureterovesical junction obs truction is a condition unique to the association between pyloric atresia a nd EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at b irth. Electron microscopic study of the biopsy specimen from the first sibl ing revealed characteristic findings of EB simplex. However, prenatal diagn osis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junction al EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.