What is CLOVES syndrome?
CLOVES syndrome (CS) is a rare disorder characterized by tissue overgrowth and complex vascular anomalies. CLOVES stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies.
What are the symptoms of CLOVES syndrome?
The most common symptoms of CLOVES syndrome are:
- Fatty masses, located in the back, flanks, axilla, abdomen and buttocks. The skin over the mass is typically covered with a red-pinkish birthmark
- Vascular anomalies: Dilated veins in the chest, upper and lower extremities may cause clot formation and occasionally serious pulmonary embolism
- Abnormal or uneven extremities (arms and legs), large and wide hands or feet, large fingers or toes, and wide space between digits (sandal gap toe)
- Spinal anomalies including scoliosis (curving of the spine), and fatty masses and vessels pushing on the spinal cord and tethered cord (spinal cord fixed by abnormal band)
- Skin birthmarks
- Kidney anomalies
- Bleeding from the intestine
- Asymmetric face and head
What causes CLOVES syndrome?
CLOVES syndrome is a nonhereditary disorder caused by a somatic (body cell) mutation in gene known as PIK3CA. Mutations in this growth regulatory gene result in two sets of cells within the body (mosaic status): those with the mutation and those without the mutation. The mutated cells give rise to the abnormal tissue.
How is CLOVES syndrome diagnosed?
The diagnosis of CLOVES syndrome is evident at birth based on physical signs and symptoms. Confirmation of diagnosis with molecular genetic testing for the PIK3CA gene mutation is currently being researched. Imaging studies to confirm diagnosis include plain x-rays (radiography) of the extremities, magnetic resonance imaging (MRI) of the chest, abdomen, pelvis, spine and limbs, and ultrasound for vascular anomalies and kidneys. Prenatal diagnosis with imaging tools is also feasible.
What treatments are available for CLOVES syndrome?
There is currently no cure for CLOVES syndrome. Palliative care aims to relieve symptoms caused by masses and minimize disease progression and disability. Medical treatment may include embolization and surgical removal of masses, especially those that are large, deep, or in the spinal region. Sclerotherapy may be used in adults to lessen pain and reduce the size of vascular and lymphatic malformations.
Where can I find out more about CLOVES syndrome?