Capillary malformation and arteriovenous malformation syndrome

  • AD, germline mutation in RASA1
  • Capillary malformation often with a border of vasoconstriction
  • Risk of skin and internal AVMS
  • RASA1 também associado a lymphatic malformations (derrame pleural, quilotórax) → estudar com MR linfangiografia. Tratar com sirolimus ou trametinib
  • Workup
    • MRI brain and spinal cord
    • Genetic testing for RASA1
    • Só se faz a RM se o teste genético for positivo
  • Parkes Weber: SOMATIC mutation in RASA 1
    • Port Wine Stain, limb overgrowth with AVM
  • Children with geographic capillary malformation need to be followed
    • risk of venous anomalies
    • At risk for DVT and PE
    • May need orthopedics
    • At risk of cellulitis
  • Capillary malformation with fast flow need to be followed
    • Suspect if heterogeneity of stain color saturation
    • Archipelago-like borders
    • Warmth to touch
    • Peripheral pallor
    • Overgrowth/soft tissue swelling