Dear Editor, Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by small, multifocal capillary malformations (CMs), with or without a perilesional pale halo and an increased risk of… Click to show full abstract
Dear Editor, Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by small, multifocal capillary malformations (CMs), with or without a perilesional pale halo and an increased risk of fast-flow vascular malformations: arteriovenous malformations (AVMs), arteriovenous fistulas (AVFs) or Parkes-Weber syndrome (PKWS). Those are located in the central nervous system, the skin, subcutis, muscles and bones, on the face and neck, and/or extremities. PKWS is characterized by limb overgrowth, capillary malformation and numerous segmental AVFs through the limb. Pathogenic variants in RASA1 (CM-AVM type 1), and EPHB4 (CM-AVM type 2) genes are identified in around 50% and 25% of patients, respectively. Recently, mosaic RASA1 pathogenic variants were reported in six unrelated patients. A newborn presented lower limb overgrowth, associated with a large overlying CM and increased local warmth. The internal
               
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