CLOVES Syndrome: Causes, Symptoms, and Treatment Explained

Learn about CLOVES Syndrome, a rare genetic disorder caused by PIK3CA mutations. Explore its symptoms, risk factors, and available treatment options.

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Context

  • 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. • 
  • These mutations can cause the enzyme to become overactive, leading to abnormal cell growth. 
  • PIK3CA mutations are also linked to several cancers, including breast, lung, ovarian, gastric, brain, colon, and rectal cancers. 
  • 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.
  • Vascular anomalies, such as dilated veins in the chest, arms, and legs, increase the risk of blood clots. 
  • Limb overgrowth, large hands or feet with wide gaps between fingers or toes. Skin abnormalities, including port-wine stains and raised bumps.  
  • Spinal issues, including scoliosis or tethered cord. 
  • Possible kidney complications.

Treatment

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

Prelims:

Q. UPSC, 2020, GS PAPER 1 PRELIMS QUESTION
Consider the following statements:
1. Genetic changes can be introduced in the cells that produce eggs or sperms of a prospective parent.
2. A person’s genome can be edited before birth at the early embryonic stage.
3. Human-induced pluripotent stem cells can be injected into the embryo of a pig. Which of the statements given above is/are correct?
(a) 1 and 2 only
(b) 3 only
(c) 2 and 3 only
(d) 1, 2 and 3

Ans:



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