Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex

We present an infant girl who was born with pyloric stenosis and epidermoly sis bullosa (EB). Electron microscopy of a skin biopsy specimen showed find ings suggestive of EB simplex, but immunofluorescence (IF) mapping of the s ame specimen established the diagnosis of junctional EB. Because electron m icroscopy findings may sometimes be misleading, an EB patient with pyloric stenosis and electron microscopy findings suggestive of EB simplex should h ave a biopsy specimen examined by immunofluorescence mapping, which may con firm that the patient in fact has junctional EB.