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A case of Goltz syndrome

 Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines

Correspondence Address:
Paula Karina N Gonzales-Carait,
Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Taft Avenue, Manila
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.158300


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.

Keywords: Focal dermal hypoplasia, Goltz syndrome, mosaicism

How to cite this URL:
Nicolas MO, Gonzales-Carait PN. A case of Goltz syndrome . Indian J Paediatr Dermatol [Epub ahead of print] [cited 2022 May 22]. Available from: https://www.ijpd.in/preprintarticle.asp?id=158300



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