Ehlers–Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers–Danlos syndrome and a family history of premature loss of permanent teeth

Summary We studied collagen expressed by skin fibroblasts in culture, and performed immunocytochemical, ultrastructural and stereological analysis of dermis from a child with signs reminiscent of a mild Ehlers–Danlos syndrome (EDS) type IV and severe periodontitis. No alterations in types I and II collagen synthesis and secretion, or serum levels of type III procollagen aminoterminal propeptide were found, and morphological studies revealed non-specific alterations of collagen and elastic components observed in many connective tissue disorders.