Neurosurgery notes/Vascular/Vascular genetic disease/Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM Syndrome)

Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM Syndrome)

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Vascular genetic disease
  • Capillary malformations on the skin;
  • AVMs can be anywhere in the body.
  • Although not part of the name, AV fistulas (spinal pial fistulas, for example) are part of the syndrome also.
  • There is no limb overgrowth.
  • As you can see, CM-AVM and Parkes-Weber are quite similar.
    • In fact, some cases of Parkes-Weber and CM-AVM share the same genetic cause.
    • It seems likely that both are in some way expressions of shared genetic aberrations.