All issues > Volume 46(6); 2003

Case Report

J Korean Pediatr Soc. 2003;46(6):606-609. Published online June 15, 2003.

A Case of Goltz Syndrome

Dong Hoon DH Lee¹, Chul Han CH Park¹, Ji Min JM Park¹, Set Byul SB Park¹, Heung Sik HS Kim¹, Young Wook YW Ryoo², Kyu Suk KS Lee², Hee Jung HJ Lee³

¹Department of Pediatrics, School of Medicine, Keimyung University, Taegu, Korea
²Department of Dermatology, School of Medicine, Keimyung University, Taegu, Korea
³Department of Radiology, School of Medicine, Keimyung University, Taegu, Korea

Correspondence Heung Sik HS Kim ,Email: kimhs@dsmc.or.kr

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.

Keywords :Goltz syndrome, Focal dermal hypoplasia, Type I collagen gene