Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 733
CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 3  |  Page : 170-172

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
Philippines
Login to access the Email id

Source of Support: Nil, Conflict of Interest: None declared.


DOI: 10.4103/2319-7250.160664

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed948    
    Printed18    
    Emailed0    
    PDF Downloaded146    
    Comments [Add]    

Recommend this journal