Goltz Syndrome With Large Esophageal Squamous Papillomas-A Unique Cause of Dysphagia Amenable to Endoscopic Treatment.

Abstract

Focal dermal hypoplasia, also referred to as Goltz syndrome, is a rare X-linked dominant multisystem disorder primarily affecting women, with an estimated prevalence of roughly 1 per 1 million individuals. The condition arises from pathogenic variants in the PORCN gene, resulting in disrupted Wnt signaling and subsequent developmental abnormalities involving the skin, skeletal system, and various other tissues. While mucocutaneous papillomas commonly affect the oral cavity and pharynx, distal gastrointestinal manifestations are infrequent. This report describes an exceptionally unusual case of focal dermal hypoplasia with multiple esophageal squamous papillomas causing symptomatic obstruction, which was effectively managed by endoscopic mucosal resection.