J Korean Pediatr Soc.
2003 Jun;46(6):606-609.
A Case of Goltz Syndrome
- Affiliations
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- 1Department of Pediatrics, School of Medicine, Keimyung University, Taegu, Korea. kimhs@dsmc.or.kr
- 2Department of Dermatology, School of Medicine, Keimyung University, Taegu, Korea.
- 3Department of Radiology, School of Medicine, Keimyung University, Taegu, Korea.
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.
