Pyloric Atresia Associated with Epidermolysis Bullosa: A Report of 4 Survivals in 5 Cases

Objective: 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.
Cases Presentation: 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.
Conclusion: 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.