A case of Goltz syndrome

Abstract

Goltz syndrome is a rare genetic X-linked dominant condition in which ectodermal and mesodermal structures – primarily skin, bones, teeth and eyes – are affected in a mosaic pattern. The skin, being the most accessible organ, allows better visualization of this mosaicism. Skin lesions follow the Blaschko’s line and consist of dermal atrophy, telangiectasia, hypopigmentation or hyperpigmentation. Mutation in the PORCN gene is said to cause these defects. A 12-year-old female born with hyperpigmented plaques with areas of atrophy and deformities of the digits (syndactyly and claw-like deformities) consulted due to masses in pharyngeal wall. She also had particular facies, dental anomalies, short stature and umbilical hernia. Skin biopsy revealed hypoplastic dermis with loose collagen bundles and lipocytes in nests insinuating in between the dermis.