Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Background Vascular anomalies are a diagnostic and therapeutic challenge. They require
dedicated interdisciplinary management. Optimal patient care relies on integral medical …

Vascular malformations are inborn errors of vascular morphogenesis and consist of
localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell …

Therapeutic modulation of vascular cell proliferation and migration is essential for the
effective inhibition of angiogenesis in cancer or its induction in cardiovascular disease. The …

Objective: Capillary malformation (CM) occurs sporadically and is associated with Sturge-
Weber syndrome. The somatic mosaic mutation in GNAQ (c. 548G> A, p. R183Q) is enriched …

Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and
mixed malformations, according to the type of affected vessels. Until a few years ago …

Arteriovenous malformations (AVMs) are fast flow malformations characterized by the
presence of arteriovenous shunting. These congenital lesions can be evolutive, leading to …

Recent next-generation DNA and RNA sequencing studies of congenital and pediatric
cerebrovascular anomalies such as moyamoya disease, arteriovenous malformations, vein …

The field of vascular anomalies has grown tremendously in the last few decades with the
identification of key molecular pathways and genetic mutations that drive the formation and …

Abstract Gorham–Stout disease (GSD), a rare disorder of unknown etiology, is characterized
by massive osteolysis that is associated with proliferation and dilation of lymphatic vessels …