The Japanese Journal of Dermatology
Online ISSN : 1346-8146
Print ISSN : 0021-499X
ISSN-L : 0021-499X
Original Articles
Three Cases of Ehlers-Danlos Syndrome Classical Type: Diagnosis and Problems in Daily Quality of Life
Yusuke MinegakiMiki TaniokaEri ArakiToru FutamiTsuneo MitaniYoshiki MiyachiAtsushi Utani
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2008 Volume 118 Issue 8 Pages 1503-1509

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Abstract

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.

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© 2008 Japanese Dermatological Association
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