Gastric outlet obstruction and epidermolysis bullosa.

Abstract

We describe a case of pyloric atresia coexisting with epidermolysis bullosa, almost certainly of the junctional type. The coexistence of pyloric atresia and junctional epidermolysis bullosa (PA-JEB syndrome) has been repeatedly observed. This syndrome has several clinical features that distinguish it from Herlitz junctional epidermolysis bullosa (JEB). These include a lack of prominent granulation tissue formation and increased frequencies of genitourinary tract involvement and ear anomalies. Aplasia cutis congenita is sometimes present; esophageal atresia is uncommonly present. In all 12 patients examined to date, normal basement membrane zone expression of laminin-5 biochemically distinguishes PA-JEB syndrome from Herlitz JEB. Mutations in the beta 4 integrin gene have been observed in one patient with PA-JEB syndrome. Thus there are both clinical and biochemical reasons to separate the PA-JEB syndrome from Herlitz JEB. This is the second known case of papillary hyperplasia of the amnion to be seen in any setting. The other was a case of JEB without pyloric atresia.

• Authors: D W Shaw, J D Fine, D J Piacquadio, M J Greenberg, J Wang-Rodriguez, L F Eichenfield
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 36 Issue 2 Pt 2 Pg. 304-10 (Feb 1997) ISSN: 0190-9622 [Print] United States
• PMID: 9039206 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Epidermolysis Bullosa
• Gastric Outlet Obstruction (congenital)
• Humans
• Infant, Newborn
• Male
• Pylorus (abnormalities)
• Syndrome