GIST OF SCIENCE REPORTER) CLOVES SYNDROME


(GIST OF SCIENCE REPORTER) CLOVES SYNDROME

(SEPTEMBER-2025)


CLOVES SYNDROME

Researchers believe that CLOVES disease is caused by mutations in the PIK3CA gene.

Key highlights: 

  • CLOVES Syndrome, in which the letters stand for: 

  • Congenital; Lipomatous; Overgrowth; Vascular malformations; Epidermal nevi and Spinal/skeletal anomalies/Scoliosis’, is a very rare genetic disorder.

  • Cancers of the breast, lung, ovary, stomach, brain, colon, and rectum are among the many cancer types that have been linked to mutations in the PIK3CA gene.

  • PIK3CA‑related overgrowth spectrum, or PROS, is a broader set of illnesses that includes CLOVES Syndrome, an overgrowth disorder.

  • It is not inherited and cannot be transmitted.

Symptoms of cloves 

  • Fatty, soft lumps on their trunk or torso (typically on the tummy, flank, or back).

  • Malformations of the vascular (blood vessel) system, usually a lymphatic malformation, swollen veins, or a combination of these.

  • Abnormalities of the limbs (usually, huge or additional fingers or toes and wide feet or toes)

  • Spinal issues (tethered spinal cord or scoliosis in several cases). 

  • Skin anomalies (usually elevated, wart-like pimples known as epidermal nevi).

  • Symptoms that are less frequent include issues with the hip or knee joints and unusual tiny or irregularly sized kidneys.

Diagnosis 

  • Examination of a detailed medical and family history 

  • Performing a thorough physical exam

How is CLOVES syndrome treated?

  • Sclerotherapy: This non-surgical technique can lessen the size and potential discomfort of the vascular abnormalities linked to CLOVES.

  • Embolisation: Arteriovenous malformations and other vascular abnormalities linked to CLOVES syndrome can be made smaller using this minimally invasive technique.

  • Debulking surgery: To remove some of the enlarged tissue and blood arteries brought on by CLOVES syndrome, some kids require debulking surgery. Debulking is a significant, invasive procedure, but for kids with severely enlarged veins or limb anomalies that limit their mobility, it can change their lives.

  • IVC filter: In children with CLOVES, a device known as an inferior vena cava (IVC) filter can help avoid pulmonary embolisms, which are potentially fatal clots that can form and pass through the bloodstream and enter the lungs.

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Courtesy: Science Reporter