Figure 2. Recurrent genetic variants found in vascular malformations.
(A) Venous malformation of the left face (arrowhead, MRI scan). (B) Cervical lymphatic malformation (arrowhead, MRI scan). (C) Extracranial supraclavicular arteriovenous malformation (arrowheads; upper panel, angio-CT scan; lower panel, angiography). Table. Most common variant genes found in vascular malformations (non-exhaustive list). BRBN blue rubber bleb nevus syndrome, CCM cerebral cavernous malformation, CM-AVM capillary malformation-arteriovenous malformation syndrome, HHT hereditary hemorrhagic telangiectasia, MCAP megalencephaly-capillary malformation-polymicrogyria syndrome, PHTS PTEN-hamartoma tumor syndrome, PROS PIK3CA-related overgrowth spectrum. Images courtesy of Dr Antoine Fraissenon (Service de Radiologie Pédiatrique, Hospices Civils de Lyon, Lyon, France).
