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Journal of the American Academy of Dermatology
Volume 44, n° 2P2
pages 330-335 (février 2001)
Doi : 10.1067/mjd.2001.105480
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings
 

Surasak Puvabanditsin, MDa,b, Eugene Garrow, MDb,c, Dae Un Kim, MDd, Pornchai Tirakitsoontorn, MDb, Jennifer Luan, MDb
Newark, Jersey City, and Livingston, New Jersey 
From the Departments of Pediatrics,a and Surgery,c University of Medicine and Dentistry of New Jersey, Newark, the Department of Pediatrics, Jersey City Medical Center,b and the Department of Pathology, St. Barnabas Medical Center, Livingston.d 

Abstract

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.)

The full text of this article is available in PDF format.

 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



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