All issues > Volume 42(2); 1999
- Case Report
- J Korean Pediatr Soc. 1999;42(2):268-273. Published online February 15, 1999.
- A Case of Type Ⅱ Ehlers-Danlos Syndrome
- Dong Hwan DH Oh1, Jin Kuk JK Kim1, Beuyng Do BD Nam1, Ju Eun JE Lee2, Je Hong JH Park2
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1Department of Pediatrics, Kwang Hwae General Hospital, Pusan, Korea
2Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
- Abstract
- 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.
Keywords :Type Ⅱ Ehlers-Danlos syndrome