About CLOVES Syndrome
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
CLOVES syndrome is a rare condition that is primarily characterized by congenital overgrowth of fatty tissue; malformations of the vascular system (the vessels that carry blood and lymph throughout the body); epidermal nevi; and spinal or skeletal abnormalities. Other signs and symptoms may include disproportionate fat distribution, overgrowth of the extremities (arms and legs), skin abnormalities and kidney problems such as an unusually small or absent kidney. The severity of the condition and the associated signs and symptoms vary significantly from person to person. CLOVES syndrome is caused by somatic genetic changes in the PIK3CA gene. Because these genetic changes do not affect egg or sperm cells, the condition is not passed on from parent to child.
Causes
What Causes This Disease?
Genetic Mutations: CLOVES syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.