title: Vascular anomalies of the head and neck: a review of genetics.
abstract: OBJECTIVE
  Vascular anomalies comprise malformations, hemangiomas, and rare tumors. The commonality among these lesions is their origin in vascular endothelia. Most occur sporadically, but occasional inheritance is observed and thus allows genetic research and insight into etiology. This review highlights those vascular anomalies in which genetic inheritance has been demonstrated.
  
  
  METHODS
  A comprehensive literature search was performed on PubMed. Fifty-five full-length articles were reviewed.
  
  
  RESULTS
  Five categories of vascular anomalies with patterned inheritance were identified: arteriovenous malformation (AVM), capillary malformation (CM), lymphatic malformation (LM), venous malformation (VM), and infantile hemangioma (IH). Capillary and arteriovenous malformation subtypes are associated with a RASA-1 gene mutation and show autosomal dominant inheritance. VEGFR3 mutations have been associated with generalized forms of LM and lymphedema. Mutations in TIE2/TEK genes cause inherited forms of venous malformations also with autosomal dominant inheritance. Familial clustering and atopic disease are associated with infantile hemangioma, and gene expression varies with the developmental stage of these lesions.
  
  
  CONCLUSIONS
  Most vascular anomalies occur sporadically, but several genes and genetic disorders have been associated with them. Specific forms of capillary malformation appear to be most convincingly associated with genomic errors. Further research promises new insights into the development of this diverse group of disorders.
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Boston , Massachusetts , USA .
authors.forename: Prashant
authors.initials: P
authors.lastname: Yadav
authors.forename: Dawn K
authors.initials: DK
authors.lastname: De Castro
authors.forename: Milton
authors.initials: M
authors.lastname: Waner
authors.forename: Lutz
authors.initials: L
authors.lastname: Meyer
authors.forename: Aaron
authors.initials: A
authors.lastname: Fay
mesh_terms: D001165:Arteriovenous Malformations / Q000235:genetics; D002196:Capillaries / Q000002:abnormalities; D006257:Head; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D044148:Lymphatic Abnormalities / Q000235:genetics; D009333:Neck; D042787:Receptor, TIE-2 / Q000235:genetics; D014652:Vascular Diseases / Q000235:genetics; D040321:Vascular Endothelial Growth Factor Receptor-3 / Q000235:genetics; D054079:Vascular Malformations / Q000235:genetics*; D014680:Veins / Q000002:abnormalities; D020729:p120 GTPase Activating Protein / Q000235:genetics
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein; C581309:FLT4 protein, human; D042787:Receptor, TIE-2; D040321:Vascular Endothelial Growth Factor Receptor-3