Hemidesmosome deficiency of gastro-intestinal mucosa, demonstrated in a child with Herlitz syndrome and pyloric atresia

In an 11-day-old premature girl with Epidermolysis bullosa atrophicans generalisata gravis Herlitz and pyloric atresia, hypoplasia of hemidesmosomes in the skin, the gastrointestinal mucosa and the atretic pyloric segment was found by electron microscopy. Pyloric atresia is explained by hemidesmosomal defects causing junctional blistering of the mucosa, subsequent peptic digestion and inflammatory scarring reaction.