Ehlers-Danlos syndrome: case report and an electron microscopy study

Rheumatol Int. 2012 Jun;32(6):1507-10. doi: 10.1007/s00296-010-1778-6. Epub 2011 Feb 9.

Abstract

Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees after low-impact trauma, chronic joint pain, and early osteoarthritis, which lead to diagnosis. The pathogenesis of this condition is unknown, and the diagnosis is generally made in adult age, based only on clinical criteria. In this report, we describe a case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars. We performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies, that highlighted collagen abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Dermis / ultrastructure*
  • Ehlers-Danlos Syndrome / complications
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / pathology
  • Female
  • Fibrillar Collagens / ultrastructure*
  • Humans
  • Joint Dislocations / etiology
  • Joint Instability / etiology
  • Microscopy, Electron, Transmission*
  • Middle Aged
  • Predictive Value of Tests
  • Recurrence

Substances

  • Fibrillar Collagens

Supplementary concepts

  • Ehlers-Danlos syndrome type 3