Pyloric atresia associated with epidermolysis bullosa: a report of 4 survivals in 5 cases

ABSTRACT

Pyloric atresia [PA] is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the most common being junctional epidermolysis bullosa [EB]. Evidence suggests that PA-EB is a distinct entity. In this report, we present 5 cases of pyloric atresia associated with Junctional epidermolysis bullosa, 4 of whom survived after surgery. Prospective evaluation of 5 patients with pyloric atresia associated with Epidermolysis bullosa undergoing therapeutic surgery. Biopsy of the fresh bulla was compatible with Junctional EB in all 5 patients. All patients underwent laparatomy after stabilization. Four neonates underwent gastroduodenostomy, and one patient had excision of membrane and pyloroplasty. Out of 5 neonates, 4 survive and one died from fulminant septicemia 12 days after operation. Although association of PA with EB has been reported to be fatal, recently there have been encouraging reports of survival among these patients. These 5 patients underwent surgery and survived, and are doing well on follow up