Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Goltz 증후군 1례

A Case of Goltz Syndrome

  • 이동훈 (계명대학교 의과대학 소아과학교실) ;
  • 박철한 (계명대학교 의과대학 소아과학교실) ;
  • 박지민 (계명대학교 의과대학 소아과학교실) ;
  • 박샛별 (계명대학교 의과대학 소아과학교실) ;
  • 김흥식 (계명대학교 의과대학 소아과학교실) ;
  • 류영욱 (계명대학교 의과대학 피부과학교실) ;
  • 이규석 (계명대학교 의과대학 피부과학교실) ;
  • 이희정 (계명대학교 의과대학 진단방사선과학교실)
  • Lee, Dong Hoon (Department of Pediatrics, School of Medicine, Keimyung University) ;
  • Park, Chul Han (Department of Pediatrics, School of Medicine, Keimyung University) ;
  • Park, Ji Min (Department of Pediatrics, School of Medicine, Keimyung University) ;
  • Park, Set Byul (Department of Pediatrics, School of Medicine, Keimyung University) ;
  • Kim, Heung Sik (Department of Pediatrics, School of Medicine, Keimyung University) ;
  • Ryoo, Young Wook (Department of Dermatology, School of Medicine, Keimyung University) ;
  • Lee, Kyu Suk (Department of Dermatology, School of Medicine, Keimyung University) ;
  • Lee, Hee Jung (Department of Radiology, School of Medicine, Keimyung University)
  • 투고 : 2003.02.14
  • 심사 : 2003.04.11
  • 발행 : 2003.06.15
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초록

저자들은 특징적인 진찰 소견과 피부 조직 생검에서 제 I형 교원질 유전자 발현의 감소를 보인 Goltz 증후군 1례를 경험하였기에 보고하는 바이다.

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.

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