Ehlers-Danlos syndrome

• autosomal dominant
• connective-tissue disorder:
  • hyperelasticity of skin, poor wound healing
  • hyperextensibility of joints
  • soft-tissue calcifications (spheroids)

• vascular lesions:
  • aortic dissection
  • aneurysms
  • rarely: tortuous arch, ectatic pulmonary aa.
  • tissue fragility ==> hematomas, aortic rupture after angio

• clinical types:
  • gravis, mitis, benign hypermobile, ecchymotic, X-linked

• a/w ** medullary sponge kidney

© 2002, C.E. Kahn, Jr.
2002-04-18