Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis.

摘要

Question: A 56-year-old woman with a history of oral papillomas since her early teens presented with heartburn and progressive dysphagia to solids. Additional history included streaky erythematous lesions of the extremities, papillomas in the axilla and inguinal region, and tooth loss. Physical examination revealed linear erythematous reddish streaks on her legs with thinning of the skin (Figure A). She had old scars from removal of papillomas in the axilla, syndactyly, and split fingernails. Oral examination revealed scars from prior cryotherapy for oral papillomas. An upper endoscopy revealed numerous (> 100) polypoid lesions in the distal 9-cm of the esophagus (Figure JB). Biopsies were consistent with squamous papilloma without dysplasia, and in situ hybridization testing for human papilloma virus was negative. What is the diagnosis?