CLOVES syndrome

CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs.

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 is believed that the first description of a case of CLOVES syndrome was written by Hermann Friedberg, a German physician, in 1867.