CLOVES syndrome is an acronym denoting a rare condition consisting of:
- Congenital Lipomatous Overgrowth
- Vascular malformations
- Epidermal nevi
- Skeletal/Scoliosis/Spinal anomalies
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal abnormalities associated with the condition, is now preferred.
The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. Abnormalities have a truncal predominance. Associated findings include:
It is associated with three different missense mutations in the PIK3CA gene 2.
- 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
- 4. Ghayda Mirzaa, Robert Conway, John M Graham, Jr, William B Dobyns. PIK3CA-Related Segmental Overgrowth. (2013) Pubmed