A Case of Goltz Syndrome.
- Author:
Dong Hoon LEE
1
;
Chul Han PARK
;
Ji Min PARK
;
Set Byul PARK
;
Heung Sik KIM
;
Young Wook RYOO
;
Kyu Suk LEE
;
Hee Jung LEE
Author Information
1. Department of Pediatrics, School of Medicine, Keimyung University, Taegu, Korea. kimhs@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Goltz syndrome;
Focal dermal hypoplasia;
Type I collagen gene
- MeSH:
Biopsy;
Blotting, Northern;
Child;
Collagen Type I;
Dermis;
Ectoderm;
Female;
Focal Dermal Hypoplasia*;
Humans;
Korea;
Kyphosis;
Mesoderm;
Polydactyly;
Scoliosis;
Skin;
Skin Abnormalities;
Spina Bifida Occulta;
Syndactyly;
Wills
- From:Journal of the Korean Pediatric Society
2003;46(6):606-609
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.
