| A Case of Type Ⅱ Ehlers-Danlos Syndrome |
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Dong Hwan Oh1, Jin Kuk Kim1, Beuyng Do Nam1, Ju Eun Lee2, Je Hong Park2 |
1Department of Pediatrics, Kwang Hwae General Hospital, Pusan, Korea
2Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea |
| Type Ⅱ Ehlers-Danlos 증후군 1례 |
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오동환1, 김진국1, 남병도1, 이주은2, 박재홍2 |
1광혜병원 소아과
2부산대학교 의과대학 소아과학교실 |
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| Abstract |
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Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders characterized by varying degrees of joint laxity, skin fragility and hyperextensibility, and a bleeding tendency. The essential defect is a quantitative deficiency of collagen. At present, 10 clinical forms have been recognized on the basis of extent and severity of the principal features, in combination with other abnormalities and the likely mode of inheritance. Type Ⅱ Ehlers-Danlos syndrome is characterized by mild skin and joint manifestations, the latter limited to hands and feet, and inherited as an autosomal dominant pattern. We experienced a case of type Ⅱ Ehlers-Danlos syndrome in 9-year-old girl with easy bruisability, skin hyperelasticity, thin, atrophic and a shiny scar, the so-called cigarette-paper scar on anterior side of lower extremities, and joint hypermobility limited to hand and feet. The diagnosis was made by characteristic clinical features and skin biopsy findings. A brief review of related literature was made. |
| Key Words:
Type Ⅱ Ehlers-Danlos syndrome |
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