Journal of the Korean Pediatric Society 2003;46(6):606-609.
Published online June 15, 2003.
A Case of Goltz Syndrome
Dong Hoon Lee1, Chul Han Park1, Ji Min Park1, Set Byul Park1, Heung Sik Kim1, Young Wook Ryoo2, Kyu Suk Lee2, Hee Jung 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
Goltz 증후군 1례
이동훈1, 박철한1, 박지민1, 박샛별1, 김흥식1, 류영욱2, 이규석2, 이희정3
1계명대학교 의과대학 소아과학교실
2계명대학교 의과대학 피부과학교실
3계명대학교 의과대학 진단방사선과학교실
Correspondence: 
Heung Sik 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.
Key Words: Goltz syndrome, Focal dermal hypoplasia, Type I collagen gene


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