A neonate with generalised bullae and pyloric atresia.

In July 2011, a 1.82-kg full-term male was delivered by caesarean section at a regional hospital. The parents were a consanguineous Pakistani couple and this was their firstborn. At birth, the baby exhibited generalised ruptured bullae (Fig 1), but there was no family history of any bullous disorder. The boy’s nails were not dystrophic. New blisters continued to develop spontaneously, without any apparent trauma. The abdomen was soft. Serial abdominal radiographs revealed absence of distal bowel gas (Fig 2). An operation was performed on day 4 of life; the suspected diagnosis of pyloric atresia (PA) was confirmed intra-operatively, and a gastroduodenostomy performed. Feeding was commenced on day 10 of life. Microscopic examination of a punch skin biopsy showed detached epidermis with blistering at the dermoepidermal junction (Fig 3). Collagen VII stain was positive, in keeping with the clinical diagnosis of certain types of epidermolysis bullosa (EB).