Genetic basis for vascular anomalies

A. Yasmine Kirkorian, Anna L Grossberg, Katherine Brown Puttgen

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)128-136
Number of pages9
JournalSeminars in Cutaneous Medicine and Surgery
Issue number3
StatePublished - Sep 1 2016


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

ASJC Scopus subject areas

  • Surgery
  • Medicine(all)
  • Dermatology

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