Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

A congenital syndrome characterized by prenatal overgrowth, hemihypertrophy and facial asymmetry, multiple vascular malformations, splenic cysts, skeletal abnormalities, and epidermal nevi. It is caused by somatic mosaic mutations in the PHOSPHOINOSITIDE 3-HYDROXYKINASE alpha peptide (PIK3CA) gene. OMIM: 612918

Also Known As:

Networked: 11 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Polymicrogyria
2.	Megalencephaly
3.	Proteus Syndrome
4.	Vascular Malformations
5.	Nevus (Nevi)

Experts

1.	Chang, Fengqi: 2 articles (01/2017 - 10/2014)
2.	Liu, Liu: 2 articles (01/2017 - 10/2014)
3.	Garreta Fontelles, Gemma: 1 article (01/2022)
4.	Grande Moreillo, Carme: 1 article (01/2022)
5.	Pardo Pastor, Júlia: 1 article (01/2022)
6.	Adams, Denise: 1 article (12/2021)
7.	Amlie-Lefond, Catherine: 1 article (12/2021)
8.	Bennett, James T: 1 article (12/2021)
9.	Dmyterko, Victoria: 1 article (12/2021)
10.	Elton, Andrew: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi:

1.	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 01/01/2022 - "CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. " 12/01/2021 - "Activating pathogenic variants in the gene PIK3CA, which encodes for the catalytic subunit of phosphatidylinositol 3-kinase, are present in both lymphatic and venous malformations as well as arteriovenous malformations in other complex disorders such as CLOVES syndrome (congenital, lipomatous, overgrowth, vascular malformations, epidermal anevi, scoliosis) (Luks et al., Pediatr Dev Pathol 16: 51 [2013]; Luks et al., J Pediatr 166: 1048-1054.e1-5 [2015]; Al-Olabi et al., J Clin Invest 128: 1496-1508 [2018]). " 10/01/2014 - "Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. " 01/01/2017 - "Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. "
2.	Sirolimus (Rapamycin)FDA Link 12/01/2019 - "We propose oral rapamycin for the treatment of patients with CLOVES syndrome who present with complications and deterioration in the quality of life as a result of the disease." 12/01/2019 - "To report the outcome of two patients with CLOVES syndrome treated with oral rapamycin. " 12/01/2019 - "In this article, we report two ca ses of CLOVES syndrome with good response to oral rapamycin treatment. " 12/01/2019 - "CLOVES syndrome: Treatment with oral Rapamycin. " 01/01/2022 - "We present the case of a patient with CLOVES syndrome who was started on compassionate treatment with alpelisib after surgical debulking of a cystic lymphangioma and treatment with sirolimus. "
3.	AlpelisibIBA 01/01/2022 - "Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum." 01/01/2021 - "PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib." 01/01/2020 - "For instance, the phenotypic manifestations of CLOVES syndrome, which is characterized by tissue overgrowth and complex vascular anomalies that result from the activation of PIK3CA mutations, can be ameliorated by the PIK3CA inhibitor alpelisib, which was developed and approved for breast cancer. " 12/01/2019 - "Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome." 01/01/2022 - "We present the case of a patient with CLOVES syndrome who was started on compassionate treatment with alpelisib after surgical debulking of a cystic lymphangioma and treatment with sirolimus. "
4.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 10/01/2014 - "Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. "
5.	Phosphatidylinositols (Phosphatidylinositol)IBA 09/01/2020 - "Anomalous marginal veins of the trunk or extremities are congenitally incompetent entities found in association with phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal deformities (CLOVES) syndrome. "
6.	DNA (Deoxyribonucleic Acid)IBA 10/01/2014 - "We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome. "

Therapies and Procedures

1.	Therapeutics 04/01/2021 - "CLOVES syndrome and cervical arteriovenous fistula: a unique association managed by combined microsurgical and endovascular therapy." 01/01/2021 - "PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib."
2.	Catheters 01/01/2023 - "Ultrasound Accelerated Catheter Directed Thrombolytic Therapy in a 15-Year-old Pulmonary Embolism Patient with CLOVES Syndrome."
3.	Thrombolytic Therapy 01/01/2023 - "Ultrasound Accelerated Catheter Directed Thrombolytic Therapy in a 15-Year-old Pulmonary Embolism Patient with CLOVES Syndrome."