Citation, DOI, disclosures and article data
Citation:
Morgan M, Fortin F, Veiga M, et al. CLOVES syndrome. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://doi.org/10.53347/rID-32261
CLOVES syndrome is an acronym denoting a rare condition consisting of:
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Congenital Lipomatous Overgrowth
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Vascular malformations
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Epidermal nevi
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Skeletal/Scoliosis/Spinal anomalies
Terminology
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal abnormalities associated with the condition, is now preferred.
Pathology
The condition is considered an overgrowth syndrome, similar to, but separate from Proteus syndrome. Abnormalities have a truncal predominance. Associated findings include:
- truncal subcutaneous fatty overgrowth, most commonly located midline at the dorsal aspect of the chest 6
- wide feet and hands
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sandal gap deformity 3
- macrodactyly
- scoliosis
- enlarged peripheral nerves
- CNS manifestations, including neuronal migration defects, hemimegalencephaly, ventriculomegaly, dysgenesis of the corpus callosum, tethered spinal cord, and neural tube defects
Genetics
It is associated with three different missense mutations in the PIK3CA gene and part of the PIK3CA-related overgrowth spectrum (PROS) 2.
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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
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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
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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
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4. Ghayda Mirzaa, Robert Conway, John M Graham, Jr, William B Dobyns. PIK3CA-Related Segmental Overgrowth. (2013) Pubmed
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5. Vikram K Mahajan, Mrinal Gupta, Pushpinder Chauhan, Karaninder S Mehta. Cloves syndrome: A rare disorder of overgrowth with unusual features – An uncommon phenotype?. (2019) Indian Dermatology Online Journal. 10 (4): 447.
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6. Frederic Bertino, Kiery A. Braithwaite, C. Matthew Hawkins, Anne E. Gill, Michael A. Briones, Rachel Swerdlin, Sarah S. Milla. Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies. (2019) RadioGraphics. 39 (2): 491-515. doi:10.1148/rg.2019180136 - Pubmed
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