| A case of type VI Ehlers-Danlos syndrome. |
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Ki Soo Pai, Young Mi Chung, Ran Namgung, Chul Lee, Dong Gwan Han |
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Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea |
| 피부 생화학 검사로 진단된 Type VI Ehlers-Danlos 증후군 1례 |
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배기수, 정영미, 남궁란, 이철, 한동관 |
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연세대학교 의과대학 소아과학교실 |
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Received: 21 June 1991 • Accepted: 24 August 1991 |
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| Abstract |
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Ehlers-Danlos syndrome is an inherited hetergenous disorder of connective tissue with characteris-
tic clinical manifestations. In this article, a case of Ehlers-Danlos syndrome is presented. A nine
months old female was admitted due to developmental delay. On physical examination, she had soft
velvety skin and corneal opacity. Both hip joints were positive for Barlow test. There was hyper-
mobility of both knee and elbow joints. Bone X-ray showed delayed ossification centers for long
bones and bilateral hip dislocation. Biopsy of the skin showed dermal hypertrophy. The diagnosis was
confirmed by aminoacid analysis of skin biopsy which revealed a profound deficiency of hydrox-
ylysine.
A brief review of related literature was made.
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| Key Words:
Type VI Ehlers-Danlos syndroem, Hydroxylysine deficiency, Corneal opacity |
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