2008 Volume 118 Issue 8 Pages 1503-1509
The classical type of Ehlers-Danlos syndrome (EDS) is an inherited disorder characterized by fragile connective tissue shown to be caused by a type V collagen gene abnormality in cases in Europe and United States. Here in we report three Japanese cases of EDS classical type: Case 1, a 45-year-old woman; Case 2, a 30-year-old woman; and Case 3, a 27-year-old man, who is a brother of the Case 2. All three cases showed the typical clinical features of EDS classical type, including skin hyperextensibility, joint hypermobility, and tissue fragility. All three cases suffer from dislocation and subluxation of joints, and severe muscle weakness, resulting in many problems in their daily lives. Rehabilitation and daily muscle training in cooperation with orthopedists may avoid these complications. Therefore, earlier clinical diagnosis by dermatologists is important for EDS patients to obtain information to improve their quality of life.