Klippel–Trenaunay syndrome belongs to the PIK3CA‐related overgrowth spectrum (PROS)

H Vahidnezhad, L Youssefian… - Experimental …, 2016 - Wiley Online Library
Abstract Klippel–Trenaunay syndrome (KTS), originally described as a triad of cutaneous
capillary malformation, bone and soft‐tissue hypertrophy, as well as venous and lymphatic …

Alpelisib treatment for genital vascular malformation in a patient with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal …

JCL Gutiérrez, R Lizarraga, C Delgado… - Journal of Pediatric and …, 2019 - Elsevier
Background Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide
(PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment …

[HTML][HTML] Molecular changes associated with vascular malformations

A Fereydooni, A Dardik, N Nassiri - Journal of Vascular Surgery, 2019 - Elsevier
Vascular anomalies are typically classified into two major categories, vascular tumors and
vascular malformations. Most vascular malformations are caused sporadically by somatic …

The onset of PI3K‐related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib

P Kobialka, H Sabata, O Vilalta, L Gouveia… - EMBO Molecular …, 2022 - embopress.org
Low‐flow vascular malformations are congenital overgrowths composed of abnormal blood
vessels potentially causing pain, bleeding and obstruction of different organs. These …

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Q Venot, T Blanc, SH Rabia, L Berteloot, S Ladraa… - Nature, 2018 - nature.com
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …

[HTML][HTML] A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

G Canaud, AM Hammill, D Adams, M Vikkula… - Orphanet Journal of …, 2021 - Springer
Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Vascular update: morphogenesis, tumors, malformations, and molecular dimensions

MM Cohen Jr - American Journal of Medical Genetics Part A, 2006 - Wiley Online Library
This vascular review is organized under the following headings: vasculogenesis and
angiogenesis; vascular endothelial growth factors, their receptors, TIE receptors, and …

[HTML][HTML] Theranostic advances in vascular malformations

V Dekeuleneer, E Seront, A Van Damme… - Journal of Investigative …, 2020 - Elsevier
Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and
mixed malformations, according to the type of affected vessels. Until a few years ago …

Genetics of vascular malformation and therapeutic implications

M Zuniga-Castillo, CL Teng… - Current opinion in …, 2019 - journals.lww.com
Genetics of vascular malformation and therapeutic implicatio... : Current Opinion in Pediatrics
Genetics of vascular malformation and therapeutic implications : Current Opinion in Pediatrics …

[HTML][HTML] A prospective multicenter study of sirolimus for complicated vascular anomalies

Y Ji, S Chen, K Yang, J Zhou, X Zhang, X Jiang… - Journal of vascular …, 2021 - Elsevier
Abstract Objective Complicated vascular anomalies (VAs) can be intractable and
uncontrollable using conventional treatment and can result in lethal outcomes. We …