CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research on CLOVES syndrome.

December 11, 2021

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.

Cold Spring Harbor Molecular Case Studies
Sarah E SheppardJames T Bennett
October 26, 2021
Review
Open Access

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.

Frontiers in Pediatrics
Andrea DiociaiutiMay El Hachem
October 21, 2021

Proteus Syndrome: Case Report with Anatomopathological Correlation.

Fetal and Pediatric Pathology
Javier Arredondo MonteroJuan Carlos López-Gutiérrez
October 13, 2021

Controversy on the management of patients carrying RET p.V804M mutation.

Endocrine
Ali S AlzahraniHindi Al-Hindi
September 27, 2021
Open Access

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

Frontiers in Pediatrics
Angelica PagliazziSabrina Giglio
June 12, 2021
Open Access

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Orphanet Journal of Rare Diseases
Pascal BrouillardMiikka Vikkula
June 3, 2021
Case Report
Open Access

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.

Hereditas
Wei YanZhimiao Lin
May 1, 2021
Case Report
Open Access

CLOVES syndrome and cervical arteriovenous fistula: a unique association managed by combined microsurgical and endovascular therapy.

Journal of Surgical Case Reports
Alhanouf AlhazzabWael Alshaya
April 28, 2021
Case Report

CLOVES Syndrome Diagnosis and Treatment in an Adult Patient.

Annals of Vascular Surgery
Joana FerreiraAmílcar Mesquita
March 1, 2021
Clinical Trial
Open Access

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Orphanet Journal of Rare Diseases
Karina FordeVeronika Dvorakova
February 14, 2021
Open Access

Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.

Pediatric Blood & Cancer
Jochen RösslerFriedrich G Kapp
January 13, 2021
Open Access

The role of the PIK3CA gene in the development and aging of the brain.

Scientific Reports
Shaozhen XieThomas M Roberts
December 29, 2020
Review
Open Access

Genes and phenotypes in vascular malformations.

Clinical and Experimental Dermatology
P H Hoeger
December 3, 2020
Case Report
Open Access

Teaching NeuroImages: CLOVES Syndrome.

Neurology
Meagan CollinsMyriam Srour
November 16, 2020
Case Report

Molecular analysis of a uterine broad ligament leiomyoma in a patient with CLOVES syndrome.

Pathology, Research and Practice
Georgia KarpathiouMichel Peoc'h
August 11, 2020
Case Report
Open Access

Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies PIK3CA as the culprit gene mutation.

Journal of Vascular Surgery Cases and Innovative Techniques
Young LimNaiem Nassiri
July 22, 2020

PIK3CA vascular overgrowth syndromes: an update

Current Opinion in Pediatrics
Meagan HughesMinnelly Luu

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