Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy. (J Am Acad Dermatol 2001;44:330-5.)Le texte complet de cet article est disponible en PDF.
| This supplement is made possible through an educational grant from Ortho Dermatological to the American Academy of Dermatology.
| Reprint requests: Surasak Puvabanditsin, MD, Department of Pediatrics, Jersey City Medical Center, 50 Baldwin Ave, Jersey City, NJ 07304.
| J Am Acad Dermatol 2001;44:330-5