J Korean Pediatr Soc.
1999 Feb;42(2):268-273.
A Case of Type II Ehlers-Danlos Syndrome
- Affiliations
-
- 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.
