CLOVE syndrome is an acronym denoting a rare condition consisting of:
- Congenital Lipomatous Overgrowth
- Vascular malformations
- Epidermal nevi
- Skeletal/Scoliosis/Spinal anomalies
Abnormalities have a truncal predominance.
Associated findings include:
The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. It is associated with three different missense mutations in the PIK3CA gene 2.
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal abnormalities associated with the condition, is now preferred.
- 1. Sapp JC, Turner JT, van de Kamp JM et-al. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am. J. Med. Genet. A. 2007;143A (24): 2944-58. doi:10.1002/ajmg.a.32023 - Pubmed citation
- 2. Kurek KC, Luks VL, Ayturk UM et-al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am. J. Hum. Genet. 2012;90 (6): 1108-15. doi:10.1016/j.ajhg.2012.05.006 - Free text at pubmed - Pubmed citation
- 3. Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. Clin. Dysmorphol. 2009;18 (1): 1-7. doi:10.1097/MCD.0b013e328317a716 - Pubmed citation