Cloves Syndrome

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevis, Spinal/Skeletal Anomalies/Scoliosis (CLOVES) syndrome is a very rare congenital (present at birth) disorder characterized by a combination of vascular (involving the blood vessels), skin, spinal, and bone or joint abnormalities.

Causes of Cloves Syndrome #

• Research by Matthew Warman, MD, director of Boston Children’s Orthopedic Research Laboratories, and pathologist Kyle Kurek, MD, has revealed that CLOVES is caused by mutations in a gene called PIK3CA.

• These mutations arise spontaneously in the womb, while a baby is developing.

• Thus far, there are no known risk factors that would make these mutations more or less likely to occur.

Symptoms of Cloves Syndrome #

• The symptoms of CLOVES can vary a great deal from child to child and can range from mild to severe.

• They are always present at birth but might not be noticeable right away, depending on how extensive they are.

Generally, in order to be diagnosed with CLOVES syndrome, a child will have one or more of the following:

• Soft, fatty masses on their torso or trunk (usually on their back, flank, or abdomen)

• Vascular (blood vessel) malformations most often, a port wine stain birthmark, lymphatic malformation, arteriovenous malformation, or enlarged veins or a combination of these

• Limb abnormalities (typically, wide feet or toes and large or extra fingers or toes)

• Spinal problems (in many cases, scoliosis or tethered spinal cord). The presence of these abnormalities often indicates that a child is more likely to have CLOVES syndrome instead of a similar disorder.

• Skin abnormalities (most often, raised, wart-like bumps called epidermal nevi)

Diagnosis of Cloves Syndrome #

Because symptoms of CLOVES syndrome can be subtle or obvious, it’s critical to seek a diagnosis from an experienced vascular anomalies specialist.

To diagnose CLOVES syndrome, doctors will usually combine these steps:

• Obtain a detailed medical and family history

• Perform a thorough physical exam

• Order imaging studies such as magnetic resonance imaging (MRI), computed tomography (CT) scans, ultrasound, and x-rays

Treatment of Cloves Syndrome #

Drug therapy with sirolimus #

Also known as rapamycin, this oral medication suppresses the immune system and slows the growth of abnormal lymphatic vessels that cause the vascular anomalies present in children with CLOVES. It can also improve symptoms, including pain.

Sclerotherapy #

This non-surgical procedure can help reduce the size of the vascular anomalies associated with CLOVES, as well as the pain they may cause.

Embolization #

This minimally invasive procedure is used to reduce the size of arteriovenous malformations and other vascular anomalies associated with CLOVES syndrome.

Debulking surgery #

• Some children need debulking surgery to remove a portion of the overgrown tissue and blood vessels caused by CLOVES syndrome.

• Though debulking is a major, invasive operation, it can be life-changing for children who have limited mobility due to limb abnormalities or painfully overgrown veins.

IVC filter #

• A device called an inferior vena cava (IVC) filter can prevent pulmonary embolisms, life-threatening clots that can form and travel through the bloodstream and into the lungs of children with CLOVES.

• The filter, which is surgically implanted, sits in the inferior vena cava (the main abdominal vein responsible for transporting blood from a child’s lower body) and traps any clots before they reach the heart and lungs.