Protein-losing enteropathy in a child with junctional epidermolysis bullosa and pyloric atresia.

We report on a newborn boy with junctional epidermolysis bullosa and pyloric atresia. Blisters were found on his skin at birth, especially in places exposed to pressure, and appeared later on his mucous membranes. Epidermolysis bullosa was confirmed by electron microscopy. Radiography revealed pyloric atresia, and a gastroduodenostomy was carried out at 7 days of age. A connective tissue septum was found between his ventricle and duodenum. The skin changes were mild, and the clinical course was determined by his protein-losing enteropathy. He died at 66 days of age from pseudomonas sepsis.