Summary
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The classic form (former EDS types I and II) is characterised by the following major clinical diagnostic criteria: hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Other minor manifestations include molluscoid tumors, subcutaneous spheroids, joint (sub)luxations, muscule hypotonia, and a family history of the disease. The prevalence of the classic form of EDS is estimated at around 1 in 30 000. In the majority of cases, transmission of classical EDS is autosomal dominant. Defective synthesis of type V collagen, a minor type of fibrillar collagen combining two alpha1(V) chains and one alpha2(V) chain has been detected in approximately 35% of cases, in which mutations in the COL5A1 and COL5A2 genes encoding these chains have been identified. In these cases, the clinical diagnosis can be confirmed biochemically by studies of collagen V secretion in cultured skin fibroblasts and by molecular studies, which are time consuming and technically demanding due to the large size of the gene. In some rare cases, transmission is autosomal recessive and associated with mutations in the tenascin-X gene. Tenascin-X is an extracellular matrix protein. Intensive studies are currently under way to identify other candidate genes. Treatment is symptomatic (antalgics, orthosis and physiotherapy). Psychosocial management may also be recommended.
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Last update: June 2006
