Ehlers-Danlos syndrome

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Background

Clinical Features

  • Type I and II: Classical
    • Hyperextension of the joints and skin
    • Easy bruising and skin fragility
    • Congenital dislocations of the hips, recurrent dislocations of other joints
    • Spondolithesis
    • Joint effusions
    • Club foot
  • Type III: Hypermobility
    • Similar to Classic, however less skin involvement
  • Type IV: Vascular
    • Colonic perforation
    • Ruptured arteries
    • Uterine rupture during pregnancy
    • Severe and frequent wound dehiscence after surgery
    • Only type that significantly affects mortality
  • Type VI: Kyphoscoliotic
    • Fragility of the ocular globe
    • Marked joint hyperextension
    • Severe scoliosis
  • Type VIIA and VIIB: Arthrochalasia
    • Profound joint hyperextension
    • Moderate short stature
  • Type VIIC: Dermatosparaxis
    • Minimal joint involvement
    • Primarily affects the skin and fascia

Differential Diagnosis

  • Marfan syndrome
  • Cutis laxa
  • Loeys-Dietz syndrome
  • Osteogenesis imperfecta
  • Larsen Syndrome
  • Stickler syndrome
  • Arteria tortuosity syndrome

Evaluation

Management

  • Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm
  • Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma
  • Monitoring of skin fragility, wound healing, easy bruising

Disposition

See Also

External Links

References