Gastric outlet obstruction and epidermolysis bullosa.
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.
Shaw
D W
DW
Department of Medicine, University of California, San Diego, USA.
Fine
J D
JD
Piacquadio
D J
DJ
Greenberg
M J
MJ
Wang-Rodriguez
J
J
Eichenfield
L F
LF
D004820:Epidermolysis Bullosa; D017219:Gastric Outlet Obstruction / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011708:Pylorus / Q000002:abnormalities*; D013577:Syndrome