Researchers believe that CLOVES Syndrome is caused by mutations in a gene called PIK3CA and less than 200 cases are believed to have been reported worldwide.
About CLOVES Syndrome:
CLOVES Syndrome, in which the letters stand for: Congenital; Lipomatous; Overgrowth; Vascular malformations; Epidermal nevi and Spinal/skeletal anomalies/Scoliosis, is very rare condition.
It is a rare genetic disorder.
It is caused by mutations in a gene called PIK3CA which makes one of the proteins in an enzyme called PI3K, which is involved in many important functions in a cell.
Mutations in the PIK3CA gene may cause the PI3K enzyme to become overactive, which may cause cancer cells to grow.
PIK3CA gene mutations have been found in many types of cancer, including cancers of the breast, lung, ovary, stomach, brain, colon, and rectum.
CLOVES Syndrome is an overgrowth disorder, part of a larger group of similar disorders called PIK3CA-related overgrowth spectrum or PROS.
The mutations in the PIK3CA gene are believed to occur spontaneously in the womb.
It is not hereditary and cannot be passed on.
Symptoms of CLOVES Syndrome
Growth of Soft masses of fatty tissue on the abdomen, back, sides and buttocks.
Vascular or blood vessel anomalies such as dilated veins that may be seen in the chest, arms and legs and that may pose a risk of blood clots
Large and wide hands or feet, with large gaps between fingers and toes; ‘port wine stain’ birthmarks;
Spinal problems such as scoliosis or a tethered cord; kidney problems; skin abnormalities such as raised bumps,
Treatment: There is no cure as yet for CLOVES syndrome. However, with the right diagnosis, healthcare providers can help patients manage symptoms.
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