Vascular malformations syndromes: an update

A Martinez-Lopez, L Salvador-Rodriguez… - Current Opinion in …, 2019 - journals.lww.com
Some vascular malformations can be associated with other anomalies, such as tissue
overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic …

[HTML][HTML] A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies

H Al‐Samkari, W Eng - Journal of Thrombosis and Haemostasis, 2022 - Elsevier
Vascular anomalies represent a diverse group of disorders classified broadly as
malformations or tumors and include the second most common hereditary bleeding disorder …

Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome

KM Keppler‐Noreuil, J Lozier, N Oden… - American Journal of …, 2019 - Wiley Online Library
Increased risk of thromboembolism has been recognized in individuals with mosaic
overgrowth disorders, Proteus syndrome (PS) and PIK3CA‐related overgrowth spectrum …

Update on classification and diagnosis of vascular malformations

CC McCuaig - Current Opinion in Pediatrics, 2017 - journals.lww.com
Vascular malformations are common. Capillary malformations are now better understood
through an updated classification. Verrucous hemangioma is truly a venulocapillary …

Somatic PIK3CA mutations as a driver of sporadic venous malformations

P Castel, FJ Carmona, J Grego-Bessa… - Science translational …, 2016 - science.org
Venous malformations (VM) are vascular malformations characterized by enlarged and
distorted blood vessel channels. VM grow over time and cause substantial morbidity …

PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

KM Keppler‐Noreuil, JJ Rios… - American journal of …, 2015 - Wiley Online Library
Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …

PIK3CA vascular overgrowth syndromes: an update

M Hughes, M Hao, M Luu - Current Opinion in Pediatrics, 2020 - journals.lww.com
PIK3CA vascular overgrowth syndromes: an update : Current Opinion in Pediatrics PIK3CA
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …

Emerging importance of molecular pathogenesis of vascular malformations in clinical practice and classifications

C Pang, CS Lim, J Brookes, J Tsui… - Vascular …, 2020 - journals.sagepub.com
Vascular malformations occur during early vascular development resulting in abnormally
formed vessels that can manifest as arterial, venous, capillary or lymphatic lesions, or in …

[HTML][HTML] PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib

A Pagliazzi, T Oranges, G Traficante, C Trapani… - Frontiers in …, 2021 - frontiersin.org
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical
entities, which share the same pathogenetic mechanism. These conditions are caused by …

CLOVES syndrome: review of a PIK3CA‐related overgrowth spectrum (PROS)

A Martinez‐Lopez, G Blasco‐Morente… - Clinical …, 2017 - Wiley Online Library
Overgrowth syndromes are characterized by global or localized disproportionate growth
associated with other anomalies, including vascular malformations and neurological and/or …