CLOVES syndrome
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Introduction
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis, &/ or skeletal abnormalities) syndrome
Epidemiology
- < 200 reported cases worldwide[3]
Pathology
- vascular disorder
- congenital, lipomatous overgrowth of vascular malformations epidermal nevi & skeletal/spinal anomalies
* images[3]
Genetics
- extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation
More general terms
Additional terms
References
- ↑ Denorme P, Morren MA, Hollants S et al Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. Pediatr Dermatol. 2018 May;35(3):e186-e188. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29493003
- ↑ Wikipedia: P110a https://en.wikipedia.org/wiki/P110a
- ↑ 3.0 3.1 3.2 Kanji A, Cobben J, Laguda B. Images in Dermatology. CLOVES Syndrome. JAMA Dermatol. 2023;159(6):659-660 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37017999 https://jamanetwork.com/journals/jamadermatology/fullarticle/2803652