CLOVES Syndrome

CLOVES Syndrome : Recently, CLOVES Syndrome has drawn renewed attention as an extremely rare genetic disorder, with fewer than 200 cases reported worldwide.

• About CLOVES Syndrome : Stands for Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/skeletal anomalies (including scoliosis).
  • Cause: Caused by mutations in the PIK3CA gene, which plays a critical role in producing the PI3K enzyme, involved in essential cellular functions.

  o These mutations can cause the enzyme to become overactive, leading to abnormal cell growth.

  o PIK3CA mutations are also linked to several cancers, including breast, lung, ovarian, gastric, brain, colon, and rectal cancers.

  o The mutation is sporadic and occurs spontaneously during fetal development. It is not hereditary and cannot be passed down genetically.

  • Symptoms: Presence of soft fatty tissue masses on the abdomen, back, sides, and buttocks.

  o Vascular anomalies, such as dilated veins in the chest, arms, and legs, increasing the risk of blood clots.

  o Limb overgrowth, large hands or feet with wide gaps between fingers or toes.

  o Skin abnormalities, including port-wine stains and raised bumps.

  o Spinal issues, including scoliosis or tethered cord.

  o Possible kidney complications.

  • Treatment : Currently, there is no known cure for CLOVES Syndrome.