A review of Ehlers-Danlos syndrome

被引:15
|
作者
Miller, Erin [1 ]
Grosel, John M. [2 ,3 ]
机构
[1] Marietta Ohio Coll, PA Program, Marietta, GA USA
[2] Riverside Radiol & Intervent Associates Inc, Columbus, OH 43214 USA
[3] Marietta Coll, PA Program, Marietta, GA 45750 USA
关键词
Ehlers-Danlos syndrome; connective tissue disease; joint hypermobility; tissue fragility; skin hyperextensibility; heritable disease;
D O I
10.1097/01.JAA.0000657160.48246.91
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
引用
收藏
页码:23 / 28
页数:6
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