Indian Journal of Paediatric Dermatology

CASE REPORT
Year
: 2015  |  Volume : 16  |  Issue : 3  |  Page : 170--172

A case of Goltz syndrome


Marie Eleanore O Nicolas, Paula Karina N Gonzales-Carait 
 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
Philippines

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.


How to cite this article:
Nicolas ME, Gonzales-Carait PK. A case of Goltz syndrome.Indian J Paediatr Dermatol 2015;16:170-172


How to cite this URL:
Nicolas ME, Gonzales-Carait PK. A case of Goltz syndrome. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Jan 27 ];16:170-172
Available from: http://www.ijpd.in/article.asp?issn=2319-7250;year=2015;volume=16;issue=3;spage=170;epage=172;aulast=Nicolas;type=0