Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

The clinical diagnosis of Ehlers–Danlos syndrome type IV, the vascular type, is made on the basis of four clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines. 1 The diagnosis is confirmed by the demonstration that cultured fibroblasts synthesize abnormal type III procollagen molecules or by the identification of a mutation in the gene for type III procollagen ( COL3A1 ). Hypermobility of large joints and hyperextensibility of the skin, characteristic of the more common forms of Ehlers–Danlos syndrome, are unusual in the vascular type. 2 , 3 Ehlers–Danlos syndrome type IV, an . . .