[Herlitz syndrome and "pyloric atresia"]

The aetiological and pathogenic relation between junctional epidermolysis bullosa (Herlitz) and prepyloric and pyloric obstruction in newborns with junctional epidermolysis bullosa is still unknown. There are two different hypotheses; one suggesting two distinct genetically related disorders (namely junctional epidermolysis bullosa and congenital pyloric atresia), the other suggesting an intrauterine mucosal damage in junctional epidermolysis bullosa. We report two infants suffering from junctional epidermolysis bullosa, Herlitz-type, verified by electron microscopy, and from connatal prepyloric and pyloric obstruction. In both cases we could demonstrate proliferative inflammation at the prepyloric antrum and pylorus as the cause of the obstruction but no complete obliteration of the pyloric channel. These findings point to an intrauterine event impacting the mucosa of the gastrointestinal tract in patients with junctional epidermolysis bullosa of the Herlitz-type and don't comply with the hypothesis of two different but genetically related diseases.