Congenital pyloric atresia and junctional epidermolysis bullosa: A report of long-term survival and a review of the literature

The coexistence of congenital pyloric atresia (PA) and epidermolysis bullosa (EB) in newborns is a rare but distinct association. Mortality is high. In particular, a universally fatal outcome has been reported in neonates born with the junctional type of EB and PA. This has led some investigators to advocate that surgical correction of PA be withheld to obviate needless suffering. We treated five patients, including one set of siblings. Maternal hydramnios and nonbilious vomiting were constant features. Delayed passage of meconium was found in four. Plain x-rays demonstrated gastric dilatation in an otherwise gasless abdomen. Blistering skin lesions were noted at birth in four and developed soon after in the last patient. All lesions were determined to be junctional EB based on electronmicroscopy. The clinical course for these children has been far better than the literature predicts. Successful repair of PA was performed after appropriate stabilization. One infant died at 4 months of age of staphyloccal septicemia, malnutrition, and sepsis from chronic urinary tract obstruction. Another child, born with dysmorphic features to consanguineous parents, is 9 years old and has a seizure disorder. The remaining three are alive and well at 17 months, and 9 and 16 years. The oldest two are siblings. In all four surviving patients, the blistering nonscarring lesions were found to significantly improve in severity, duration, and occurrence with age. Presently, these lesions are mild and require little therapy. Their nails, initially normal at birth, have become discoloured, thickened, and dystrophic. The management of pitted, carious, and yellow teeth is currently the major problem. Healthy, long-term survival in patients with junctional EB and PA is documented in this report. Nonoperative management of PA is inappropriate in the stable neonate with EB.