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Ehlers-Danlos Syndrome

(see also: Marfan's Syndrome)

Discussion

  • autosomal dominant disorder characterized by hyperextensibility of "cigarette paper" skin joint hypermobility and dislocation, soft
    tissue/bony fragility, and soft tissue calcification;
  • joint effusions and arthralgias are common, and children are often misdiagnosed with forms of arthritis;
  • all forms the disease may cause skin fragility, bruising, scarring, joint discomfort and osteoarthritis;
  • cutaneous manifestations are present in all forms;
    • skin is soft, velvety, and may be abundant over hands & feet;
    • it is hyperextensible, but returns immediately to normal configuration when released;
    • it may be extremely fragile, splitting after insignificant trauma;
    • wounds are characterized by minor bleeding and dehiscence;
    • sutures may pull out of surgical wounds;

subtypes

  • some forms are produced by mutations in genes for type I or type III procollagens, but others are produced by defects
    in enzymes (lysine hydroxylase deficiency) required for the assembly or processing of procollagens;
  • marked heterogeneity (differing mutations in the same genes causing the same disease w/ varying degrees of clinical
    severity);
  • type II is most common and least disabling;

type IV

  • the vascular type, which causes severe and often fatal rupture of the bowel, other organs, and large arteries;
  • is rare but very severe form of syndrome in that it frequently produces rupture of large arteries and hollow organs;
  • defect of type III procollagen in Ehlers-Danlos syndrome;
  • in the study by Pepin M, et al. (2000), the authors reviewed the clinical and family histories of and medical and surgical
    complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their
    affected relatives;

    • COL3A1 mutation was found in 135 index patients.
    • 25 % of the index patients had a first complication by the age of 20 years;
    • more than 80 percent had had at least one complication by the age of 40;
    • calculated median survival of the entire cohort was 48 years;
    • most deaths resulted from arterial rupture;
    • bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely led to death;
    • complications of pregnancy led to death in 12 of the 81 women who became pregnant;
  • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Treatment

  • consists of PT, orthotics, & arthrodesis;
  • soft tissue procedures fail

References