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

Cynthia L. Nicholson; Sheilagh M. Maguiness

doi:10.1016/j.det.2021.12.009

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

Cynthia L. Nicholson, Sheilagh M. Maguiness

Dermatology

Research output: Contribution to journal › Review article › peer-review

1 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	127-136
Number of pages	10
Journal	Dermatologic Clinics
Volume	40
Issue number	2
DOIs	https://doi.org/10.1016/j.det.2021.12.009
State	Published - 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.

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.det.2021.12.009

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title = "Systemic Therapy for Vascular Anomalies and the Emergence of Genotype-Guided Management",

abstract = "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.",

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author = "Nicholson, {Cynthia L.} and Maguiness, {Sheilagh M.}",

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.",

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doi = "10.1016/j.det.2021.12.009",

language = "English (US)",

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AU - Maguiness, Sheilagh M.

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AB - 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.

KW - Emerging therapies

KW - Genetic mutations

KW - Medical management

KW - Vascular malformations

KW - Sirolimus

KW - Humans

KW - Quality of Life

KW - Vascular Malformations/drug therapy

KW - Genotype

KW - Phosphatidylinositol 3-Kinases

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DO - 10.1016/j.det.2021.12.009

M3 - Review article

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SN - 0733-8635

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SP - 127

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

Abstract

Bibliographical note

Keywords

PubMed: MeSH publication types

UN SDGs

Publisher link

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