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What Is CLOVES Syndrome?
CLOVES syndrome is a very rare genetic disorder. It's named for the combination of vascular, skin, spinal, and bone or joint abnormalities that make up the syndrome:
- C: Congenital (present at birth)
- L: Lipomatous (referring to lipomas, soft fatty masses often found on one or both sides of the back and belly)
- O: Overgrowth (of fatty tissue in some body areas, which grow much more quickly than others)
- V: Vascular malformations (problems with lymph and blood vessels)
- E: Epidermal nevi (skin lesions)
- S: Spinal/skeletal anomalies and/or scoliosis (a tethered spinal cord)
CLOVES and other rare conditions that can cause similar symptoms are often called overgrowth disorders. These are part of a larger group of similar disorders called PIK3CA-related overgrowth spectrum (PROS).
What Are the Signs & Symptoms of CLOVES Syndrome?
Children who have CLOVES syndrome are born with the condition. It can cause:
- fatty tissue masses on the belly, back, or sides
- problems with feet and hands (large, wide hands and feet; large fingers or toes; unusual spacing between toes and fingers)
- dilated veins (chest, arms, legs, and feet with a risk of blood clots)
- birthmarks (flat or raised red or brown areas, port-wine stains)
- spinal curvature (scoliosis) or tethered cord (when the spinal cord is attached to the spinal column)
- kidney problems (unusual size, asymmetry, Wilms tumor)
- intestinal and bladder problems (bleeding)
- asymmetric growth (one side grows faster than the other, such as the arms and legs or head)
CLOVES syndrome symptoms vary widely in combination and severity. Some children have mild symptoms, while others can have serious, life-threatening problems.
What Causes CLOVES Syndrome?
CLOVES is caused by a genetic mutation (an error in a person's genes). Sometimes, like with CLOVES, genes can mutate (change) on their own, with no known reason. This is called a sporadic mutation. It is not hereditary (passed down by parents to their children).
How Is CLOVES Syndrome Diagnosed?
Doctors usually diagnose CLOVES at birth based on a baby's physical problems. Careful examination and advanced imaging tests (MRI, CT scan, ultrasound) might be needed to confirm the diagnosis. Fetal diagnosis (while a baby is still in the womb) is sometimes possible. But because CLOVES is so rare, it's still unknown to many health care providers. There is a genetic test for the underlying genetic mutation, which requires a biopsy to take a small piece of the abnormal tissue.
CLOVES syndrome can cause problems that are similar to those of other rare disorders. Klippel-Trenaunay syndrome, Proteus syndrome, and hemihypertrophy also cause blood vessel overgrowth and abnormalities in certain body areas. While these syndromes can look the same, they're caused by different genetic mutations. To diagnose CLOVES, doctors will look for its combination of vascular, skin, and spinal problems.
How Is CLOVES Syndrome Treated?
There is no cure for CLOVES, but a team of health care specialists can help families manage the conditions and symptoms it causes. These specialists can include a vascular interventional radiologist, a general surgeon, a hematologist, a genetics doctor, a pathologist, a radiologist, a plastic surgeon, an orthopedic specialist, a neurosurgeon, and others.
Treatments for CLOVES include:
- medical therapy: some newer medicines, including sirolimus, can help control some effects of the syndrome
- sclerotherapy: to shrink the vascular malformations and lymphatic spaces/cysts
- interventional radiology procedures: to shrink tumors or repair lymph and blood vessel malformations
- embolization: to block blood vessels or vascular channels of malformations
- debulking surgery: to remove some tissue overgrowth, which will help the affected area function and decrease deformity
- surgery: general, urology, gastroenterology, thoracic
- orthopedic procedures: to correct foot, hand, spine, bone, and joint problems
- neurosurgery: to repair a tethered spinal cord, or spinal mass and craniofacial anomalies
- rehabilitation therapies: including physical therapy and occupational therapy
What Else Should I Know?
Early diagnosis is very important for kids with CLOVES. Evaluation and treatment with a multidisciplinary team specializing in vascular anomalies and vascular malformations should start as soon as possible to help manage a child's specific symptoms and health.
Research into medicines and other treatments that can help kids with CLOVES is ongoing. You also can find information and support online at:
- Wilms Tumor
- Venous Malformations
- Arteriovenous Malformations
- Port-Wine Stains
- All About Genetics
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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