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CLOVES syndrome

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

Related

PIK3CA overgrowth syndrome

General

genetic syndrome (multisystem disorder)

References

  1. 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: 29493003
  2. Wikipedia: P110a https://en.wikipedia.org/wiki/P110a
  3. Kanji A, Cobben J, Laguda B. Images in Dermatology. CLOVES Syndrome. JAMA Dermatol. 2023;159(6):659-660 PMID: 37017999 https://jamanetwork.com/journals/jamadermatology/fullarticle/2803652