Genetics and syndromes associated with vascular malformations.
Historically, vascular malformations were not thought to be the result of genetic abnormalities because most of those presenting clinically are sporadic. However, research in this field has expanded over the last decade, leading to the identification of genetic defects responsible for several inherited forms of vascular malformations and associated syndromes, which has shed light on the pathogenesis of sporadic lesions. This advancement in the field has not only enhanced diagnostic capabilities but also improved our understanding of the potential role of complex genetic mechanisms in vascular malformation development. This article focuses on genetic contributions of vascular malformations in the context of syndromes and the tests that are available.
Duffy
Kelly
K
Dermatology Department, Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. kduffy@mcw.edu
D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics*; D001808:Blood Vessels / Q000002:abnormalities*; D002196:Capillaries / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics; D044148:Lymphatic Abnormalities / Q000235:genetics*; D042601:Lymphatic Vessels / Q000002:abnormalities; D009383:Neoplasms, Vascular Tissue / Q000235:genetics; D009389:Neovascularization, Pathologic / Q000235:genetics; D013577:Syndrome