THE PYLORIC ATRESIA JUNCTIONAL EPIDERMOLYSIS-BULLOSA SYNDROME - REPORT OF A CASE AND REVIEW OF THE LITERATURE

Background and Methods.- The concomitant occurrence of the two rare conditions of pyloric atresia (PA) and inherited epidermolysis bullosa (EB) is not as rare as would be expected. We collected 41 case reports in the world literature and add a personal case in which EB was investigated with modern methods and found to be a GB3-positive/non-Herlitz junctional variant. Observations.- Our review of the PA-EB association discloses that it is an autosomal recessive inherited entity in which EB is of the junctional EB (JEB) subtype and PA is a primary manifestation rather than a scarring process secondary to JEB. The disease is thus better called "PA-JEB." Patients with the PA-JEB syndrome present, not uncommonly, with erosions and/or subepithelial cleavage in the respiratory, gastrointestinal, and urinary tracts. In addition, certain facultative features are unique to PA-JEB, ie, obstruction of the ureterovesical junction and high incidence of a peculiar form of aplasia cutis congenita. Conclusion.- The GB3 monoclonal antibody was found normally expressed in three of three cases, excluding the Gravis-Herlitz variant, in spite of an unmatching EB phenotype in one case. Further studies are needed to assess which of the JEB varieties are present in the PA-JEB syndrome.