Systemic Therapy for Vascular Anomalies and the Emergence of Genotype-Guided Management

Cynthia L. Nicholson, Sheilagh M. Maguiness

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


Improved understanding of the genetic basis of vascular anomalies has uncovered a growing need for targeted medical therapies. This is especially important for lesions not amenable to surgical interventions or interventional radiologic techniques. Recent studies and case reports have documented the effective use of tailored medical therapies in several distinct types of vascular anomalies. Sirolimus, mitogen-activated protein kinase inhibitors, and phosphoinositide 3-kinase inhibitors have emerged as potential therapies. Although this remains a growing field with significant knowledge gaps, a more optimistic outlook for patients with previously devastating impact on function and quality of life seems now within reach.

Original languageEnglish (US)
Pages (from-to)127-136
Number of pages10
JournalDermatologic Clinics
Issue number2
StatePublished - Apr 2022

Bibliographical note

Funding Information:
The authors would like to thank Michael Murati, MD for his contributions to this article and expertise in radiologic imaging. Dr S.M. Maguiness has participated in an advisory board for Verrica Pharmaceuticals and has been an investigator for Regeneron Sanofi. She is the co-founder of Stryke Club, a personal care brand for teen boys.


  • Emerging therapies
  • Genetic mutations
  • Medical management
  • Vascular malformations
  • Sirolimus
  • Humans
  • Quality of Life
  • Vascular Malformations/drug therapy
  • Genotype
  • Phosphatidylinositol 3-Kinases

PubMed: MeSH publication types

  • Review
  • Journal Article


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