Dominant Dystrophic Epidermolysis Bullosa Associated With Pyloric Stenosis and Congenital Absence of Skin

The occurrence of pyloric atresia in association with congenital epidermolysis bullosa (EB) has been reported in more than 80 patients. Almost all of these cases are in patients with junctional EB of a special subset characterized by abnormalities of the α6β4-integrin by mutation of either the α6 or the β4 chain, resulting in both cases in a defective link between the basal keratinocytes and the anchoring filaments of the lamina lucida.¹ We present an uncommon case of congenital pyloric stenosis in a young patient associated with a dominant dystrophic form of EB and a congenital localized absence of skin (Bart syndrome).