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 fea- tures 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 curls congenita is sometimes present; esoph- ageal 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 [34 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.