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Ehlers-Danlos syndrome

Synonym:

Cutis hyperelastica

Ehlers-Danlos syndrome is a group of inherited disorders of collagen metabolism.

There are at least 10 subtypes with a variable expression of skin fragility, hyperelasticity of the skin and hypermobility of the joints.

The major features differentiating more common types of Ehlers-Danlos syndrome are listed.

Types of Ehlers-Danlos syndrome and their main clinical features:
  • Type I Hyperextensible skin, hypermobile joints and papyraceous scars.
  • Type II Hyperextensible skin, hypermobile joints and papyraceous scars, but more mild.
  • Type III Hypermobile joints with minimal skin abnormality.
  • Type IV Thin fragile skin and blood vessels, but normal joints.
  • Type V Resembles type II, but ecchymoses more marked.
  • Type VI Soft skin, keratoconus and intra-ocular hemorrhage.
  • Type VII Extreme joint hypermobility often with congenital hip dislocation.
  • Type VIII Hyperelastic skin and joints with periodontitis.
  • Type IX Bladder diverticula, inguinal hernias, mild skin changes, skeletal defects.
  • Type X Mild skin and joint changes, but prominent bruising.

(after J.L. Burton, 1992)

Treatment:

  • There is no effective treatment.
  • Fragile skin that has been torn may be approximated with tissue glue, as sutures hold only very poorly.
Ehlers danlos syndrome


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