The term “vascular anomalies” represents a heterogeneous spectrum of vascular lesions. Although the etiology is unclear and most likely represents a multifactorial process, studies evaluating response to medical therapies, the identification of genomic and somatic mutations in some patients with vascular anomalies, and other research findings have contributed to our understanding of the pathogenesis of these disorders. Patients with vascular anomalies represent a unique population, in that they have focal aberrations of vascular development (vasculogenesis in vascular malformations) or vascular proliferation (angiogenesis in hemangiomas). Descriptive analyses of associated skeletal and developmental variations have led to the discovery of patterns of anatomic distribution of many vascular anomalies, as well as the identification of syndromic associations. In recent years, genomic and somatic mutations have been recognized as etiologic factors in the evolution of these lesions.
However, despite an updated classification, and an increased interest in vascular anomalies on the part of many physicians, misdiagnosis remains a major impediment to optimal evaluation and management. Medical training and textbooks are in the process of being updated to address this shortcoming, in order to align physicians and other healthcare providers in all fields (e.g., pathologists, radiologists, orthopedists, surgical and medical generalists and specialists, etc.) to appreciate the differences among vascular anomalies. Recognition of these differences is essential to appropriate evaluation and management. As more physicians become fluent in this terminology, patients in turn can receive informed opinions and acquire realistic expectations concerning their diagnoses.
The most common error is using the term “hemangioma” as the diagnosis for any benign vascular lesion, and this has been verified by studies assessing the improper use of this term. The current chapter aims to discuss the differential diagnosis of proliferative vascular “tumors” and vascular malformations and to clarify the nomenclature and features which differentiate distinct categories of vascular anomalies.
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The author is grateful for the patients with vascular anomalies, their families, and colleagues who participate in the care of and research in this field.
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