The Ehlers-Danlos syndromes are a heterogeneous group of inherited connective tissue diseases. They share, to varying degrees, the cardinal features of soft, hyperextensible skin which scars easily due to fragility, easy bruising and joint hypermobility. Some subtypes are associated with internal organ fragility, most commonly arterial rupture. It is important therefore to delineate, wherever possible, the subtype of the affected individual in order to provide appropriate investigations and counselling. The diagnosis is based on the history, inheritance pattern, clinical examination and biochemical or genetic testing that is available for some of the subtypes. Until recently, the underlying genetic mutations responsible for EDS have been confined to genes encoding fibrillar proteins or collagen processing enzymes. Other extracellular matrix proteins such as tenascin-X and a zinc transporter gene have now been implicated, thereby extending the phenotypic spectrum of these syndromes. © 2011 Blackwell Publishing Ltd.
Burrows, NP; Sidhu-Malik, N; Yeowell, HN
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