| Abstrakt: |
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).1,2 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. Fast-flow vascular malformations are encountered in about 30% of CM-AVM patients.2 To date, six out of seven reported patients with mosaic variants present such a fast-flow vascular malformation.4,5 Therefore, the VAF at the constitutional level is not correlated with the severity of the phenotype. [Extracted from the article] |
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