CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs.
CLOVES syndrome | |
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Other names | Congenital Lipomatous Overgrowth-Vascular malformation-Epidermal nevi-Spinal anomaly syndrome Congenital Lipomatous Overgrowth-Vascular malformation-Epidermal nevi-Skeletal anomaly syndrome |
Mutations affecting PI3kinase are involved in the cause of this condition |
It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate.
In 2018 French doctor Guillaume Canaud[1] published an article in Nature that demonstrate the efficacy of BYL719 (From cancer), an inhibitor of PIK3CA, in preventing and improving organ dysfunction. It seems this treatment is having tremendous and quick effects.
CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few.
'CLOVES' is an acronym for:[2][3]
The syndrome was first recognised by Saap and colleagues who recognised the spectrum of symptoms from a set of seven patients.[4] In this initial description the syndrome is named CLOVE syndrome. It is believed that the first description of a case of CLOVES syndrome was written by Hermann Friedberg, a German physician, in 1867.[5][6]
Somatic mutations in the PIK3CA have been identified as a cause of CLOVES syndrome.[7] PIK3CA is a protein involved in the PI3K-AKT signalling pathway. Mutations in other parts of this pathway cause other overgrowth syndromes including Proteus syndrome and hemimegalencephaly.[7]
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