Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature.

Abstract

Epidermolysis bullosa with associated pyloric atresia (EB-PA) is a rare subtype of epidermolysis bullosa with a high mortality characterized by skin fragility, pyloric atresia, as well as renal and ureteral abnormalities. We present a unique case of EB-PA in a newborn male further complicated by esophageal atresia and nephrotic syndrome. We review the previously reported nine cases of EB-PA with esophageal atresia. However, to our knowledge, this case represents a previously unreported phenotype of EB-PA with esophageal atresia and nephrotic syndrome.