A case of pyloric atresia associated with junctional epidermolysis bullosa

Abstract

We describe an infant with congenital pyloric atresia associated with junctional epidermolysis bullosa, which is now recognized as an autosomal recessive syndrome. Laparotomy revealed a membrane in the pyloric antrum. Clinical manifestations included intractable diarrhoea and malnutrition due to protein-losing gastroenteropathy. A satisfactory nutritional state could not be obtained during the clinical course and the child died.

Gastrointestinal complications of epidermolysis bullosa in children

“…This protein is expressed not only at the cutaneous basement membrane zone, but also in a number of other stratified squamous and transitional epithelia, [41][42][43] notably the gut and urogenital tract. PLE and diarrhoea have been reported previously in a few of cases of JEB-PA, [44][45][46] and a6b4 integrin deficiency has been identified in an infant with total gut mucosal detachment, intractable diarrhoea, but no skin abnormalities. 47 It is possible that microscopic or macroscopic detachment of gut epithelium from the underlying lamina propria is responsible for the PLE observed in the patients with JEB in the present study.…”

Gastric Outlet Obstruction and Gastric Infarct in Junctional Epidermolysis Bullosa

“…Still others provide microscopic details (13)(14)(15)(16)(17), usually describing a solid mass of connective tissue with total pyloric luminal obliteration. Additional findings include pyloric luminal web (18), membranous diaphragms (19,20), duodenal atresia (21), pyloric atresia acquired at 1 month of age (22), complete separation of the blind stomach and duodenum (23), and association with ureterovesicular obstruction (8,24,25) and hydronephrosis (10,18). Our patient had necrosis of almost the entire stomach, a finding detected only at laparotomy and that undoubtedly contributed to his demise.…”

Outcome After Surgical Repair of Junctional Epidermolysis Bullosa–Pyloric Atresia Syndrome

“…Most infants who undergo surgical correction die within the first months of infancy from a variety of other causes, among which gastrointestinal and nutrition-related problems are particularly important. 1,[7][8][9][10][11][12][13] We report our experience with 3 patients with JEB-PA. Despite successful surgical intervention in 2 of the cases, failure to thrive and death ensued.…”