Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies
Abstract
In 1997, Ehlers-Danlos syndrome type VIII (EDS-VIII) was excluded from the diagnostic categories as there were insufficient data regarding the clinical features and the precise underlying molecular basis. However, a recent review of published cases shows that EDS-VIII has distinctive clinical features, which would suggest that it should be considered as a separate entity in future nosological classifications. The underlying molecular defect in EDS-VIII is unknown. A reduction of collagen type III was reported in a single case, but no consistent biochemical or structural changes are detectable. We report a patient with EDS-VIII who showed a reduction in the collagen type I and type III synthesis rates. Type I and type III procollagen and collagen synthesis and secretion rates were investigated in cultured fibroblasts and compared with five healthy controls and three patients with EDS type IV whose fibroblasts were cultured in parallel.
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