Ehlers-Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders. It characterized by remarkable joint hypermobility, abnormal skin texture and tissue fragility (including skin fragility with abnormal scarring, vascular fragility with easy bruisability and a variable bleeding tendency) and other manifestations of generalized soft connective tissue fragility.

Different defects in the synthesis of collagen lead to an increased elasticity within different types of connective tissue (skin, joints, muscles, tendons, blood vessels and visceral organs). Depending on the specific subtype and individual aspects, defects are mild to life threatening.

The 1997 Villefranche classification of EDS was based on the identification of genetic alterations affecting the synthesis and structure of type I, III and V collagen.1 Since then, the molecular genetic basis of other types of EDS has been delineated and a further classification is due.

The hypermobile type of EDS (EDS III) is characterized by marked joint hypermobility, moderate skin involvement, and an absence of tissue fragility. It is inherited as an autosomal dominant trait; the underlying defect is unknown.

Ehlers-Danlos syndrome