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

Br J Dermatol. 1993 Apr;128(4):458-63. doi: 10.1111/j.1365-2133.1993.tb00211.x.

Abstract

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 III [corrected] 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alveolar Bone Loss / complications
  • Child
  • Collagen / biosynthesis
  • Ehlers-Danlos Syndrome / complications
  • Ehlers-Danlos Syndrome / metabolism
  • Ehlers-Danlos Syndrome / pathology*
  • Family
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Pedigree
  • Periodontitis / complications
  • Procollagen / biosynthesis
  • Skin / ultrastructure
  • Tooth Loss / etiology

Substances

  • Procollagen
  • Collagen