Genetic study of two Tunisian Ehlers Danlos syndrome type VI

Abstract

Ehlers Danlos syndromes (EDS) represent a clinically and genetically heterogeneous category of connective tissue disorders characterized by hyperextensibility of the skin and hypermobility of the joints.

Clinical genetic and biochemical grounds distinguish eight types. The type VI is characterized by specific biochemical defect of lysyl hydroxylase.

We report 2 cases of EDS type VI, clinically and biochemically confirmed. We focused our interest on the range of clinical severity in these patients and the comparison between our patient's clinical data and clinical findings reviewed in the literature.