GENETICS: Edited by Nathaniel H. RobinVascular malformations syndromes: an updateMartinez-Lopez, Antonioa,b; Salvador-Rodriguez, Luisa; Montero-Vilchez, Trinidada; Molina-Leyva, Alejandroa,b; Tercedor-Sanchez, Jesusa,b; Arias-Santiago, Salvadora,b,c Author Information aDermatology Unit, Hospital Universitario Virgen de las Nieves bInstituto de Investigación Biosanitaria ibs.GRANADA cDermatology Department, University of Granada, Granada, Spain Correspondence to Alejandro Molina-Leyva, MD, PhD, Avenida de Madrid, 15, 18012 Granada, Spain. Tel: +34 686731837; e-mail: [email protected] Current Opinion in Pediatrics: December 2019 - Volume 31 - Issue 6 - p 747-753 doi: 10.1097/MOP.0000000000000812 Buy Metrics Abstract Purpose of review To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. Recent findings This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. Summary Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel–Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel–Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.