ABNORMAL COLLAGEN FIBRIL STRUCTURE IN THE GRAVIS FORM (TYPE-I) OF EHLERS-DANLOS SYNDROME

  • 1 January 1979
    • journal article
    • research article
    • Vol. 40  (2) , 201-206
Abstract
The Ehlers-Danlos syndrome (EDS) is a clinically, genetically and biochemically heterogeneous group of disorders characterized by generalized connective tissue abnormalities. Collagen fibrils were studied by EM in the dermis of 9 individuals with clinical findings consistent with type I Ehlers-Danlos syndrome. In all patients the collagen fibrils had an increased mean diameter (13-40%) and showed a higher degree of variability in width and shape than collagen fibrils from controls. Approximately 5% of the fibrils were much wider (up to 500 nm vs. 90 nm), had a highly irregular outline when viewed in cross-section and were spiraled and fragmented in longitudinal view. The periodicity of banding was normal. The mode of inheritance was dominant in 5 patients, probably recessive in 2 and could not be determined in the remaining 2. Despite genetic heterogeneity among these patients with type I Ehlers-Danlos syndrome, the ultrastructural findings are indistinguishable and do not allow discrimination in sporadic cases between the recessive and the more common dominant form. Abnormalities of fibrillogenesis are apparently heterogeneous in origin. Some might be due to primary defects in collagen; others may result from alterations of noncollagenous extracellular matrix components that influence collagen fibril formation.