Genetic basis for vascular anomalies

Semin Cutan Med Surg. 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051.

Abstract

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome.

Keywords: Maffucci syndrome; PIK3CA-related overgrowth spectrum; PROS; Parkes-Weber syndrome; Proteus syndrome; SOLAMEN syndrome; Sturge-Weber syndrome; arteriovenous malformation; blue rubber bleb nevus syndrome; capillary malformation; capillary malformation-arteriovenous malformation; congenital hemangioma; cutaneo-mucosal venous malformation; genetic, , , ,; lymphatic malformation; phakomatosis pigmentovascularis; venous malformation; verrucous venous malformation.

Publication types

  • Review

MeSH terms

  • Class I Phosphatidylinositol 3-Kinases
  • Humans
  • Mutation
  • Phenotype
  • Phosphatidylinositol 3-Kinases / genetics
  • Syndrome
  • Vascular Malformations / genetics*
  • Vascular Malformations / pathology

Substances

  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human