How we approach complex vascular anomalies and overgrowth syndromes

Abstract

Vascular anomalies, both vascular tumors and vascular malformations, can occur in isolation or as part of syndromes including those which feature phenotypic overgrowth. To update what is known about vascular anomalies associated with overgrowth, PubMed was searched for “overgrowth syndromes and vascular anomalies or malformations.” PubMed, OMIM, and the Rare Disease Database also were searched for specific diagnoses. We review individual overgrowth syndromes, provide a case‐based approach to the clinical, radiographic, pathologic, and genetic basis for diagnosis, to complications of both the vascular anomalies and the overgrowth, and emphasize the need for a multidisciplinary approach to care.

Sociodemographic characteristics of pediatric patients with vascular malformations: Results of a single site study

“…Similarly, disproportionate group size in RUCA codes limited the ability to compare the number of patients per total population in each RUCA code. Categories created for simplicity led to the grouping of several heterogeneous conditions, such as “overgrowth syndrome” which contained several different syndromes with vastly different symptomology and etiology ( 16 , 21 ). This potentially could have masked intra-group differences as well.…”

Introduction: The changing role of the pediatric hematologist/oncologist in the care of people with vascular anomalies

“…The articles use cases to illustrate approaches and summarize overviews. This supplement provides several articles that discuss general approaches to suspected vascular lesions, vascular tumors (including hemangiomas), and management strategies for localized lesions 1‐5 …”

“…What are the risks, and how to manage interventional procedures? 6 Often, hematologists and oncologists manage other complications associated with complex vascular anomalies due to underlying genetic conditions or overgrowth syndromes. Overviews of these conditions are reviewed to assist providers with recognition and management strategies 3,7,8 …”

“…This supplement provides several articles that discuss general approaches to suspected vascular lesions, vascular tumors (including hemangiomas), and management strategies for localized lesions. [1][2][3][4][5] There are some challenging conditions associated with vascular anomalies that require integration with other disciplines. Complex chylous effusions require multimodal approach and coagulopathies can be presenting symptoms.…”

“…Overviews of these conditions are reviewed to assist providers with recognition and management strategies. 3,7,8 One area where knowledge has grown exponentially is with the understanding of genetics and vascular anomalies. This has been driven by advances in DNA sequencing technology and decreased costs.…”