Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi and Skeleptal/Spinal Abnormalities Syndrome (CLOVES)

CLOVES syndrome is a rare condition that is present at birth. Characteristics of the condition include:

  • Fatty overgrowth: Soft fatty masses of variable size are noted at birth and can be located in the back, flanks, axilla, abdomen and buttocks. These masses may affect one or both sides of the body. The skin over the mass is typically covered with a red-pinkish birthmark (capillary malformation or port-wine stain).
  • Vascular anomalies: Patients may have dilated veins in the chest, upper and lower extremities or lymphatic malformations, which are frequently noted within the fatty masses or in the abdomen, chest and extremities; a small subgroup of patients may have an arteriovenous malformation around the spinal cord.
  • Abnormal extremities (arms and legs): Large, wide hands or feet, large fingers or toes, wide space between digits (sandal gap toe) and uneven size of extremities are common.
  • Spinal anomalies: These can include scoliosis (curving of the spine), fatty masses and vessels pushing on the spinal cord, and a tethered cord (spinal cord fixed by abnormal band).
  • Vascular lesion: Some patients may have capillary malformations, prominent veins, lymphatic vesicles, moles and epidermal nevus (slightly raised areas of skin with light brownish color).
  • Kidney anomalies: The size of the kidneys could be asymmetric (one is larger) and may show some abnormal features on imaging studies. Wilms tumor has been noted in a small number of young patients with CLOVES syndrome. This requires screening with serial ultrasound examinations during childhood.

Additional findings that can occur in CLOVES syndrome include bleeding from the intestine or the bladder or an asymmetric face and head.

The severity of the condition and the associated signs and symptoms vary significantly from person to person. CLOVES syndrome is caused by somatic mutations in the PIK3CA gene. PIK3CA-related overgrowth syndromes (PROS) refer to a group of disorders caused by PIK3CA gene mutations.

CLOVES is not known to be inherited.

Diagnosis:

You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan.

Additional testing may include:

  • Molecular genetic testing for the PIK3CA gene mutation to confirm diagnosis
  • Imaging studies such as X-rays; MRIs of the chest, abdomen, pelvis, spine and limbs; or an ultrasound for vascular anomalies and kidneys

Treatment:

Currently, there is no cure for CLOVES. Treatment for the syndrome involves addressing each symptom or complication and improving quality of life. Palliative care aims to relieve symptoms caused by masses and minimize disease progression and disability. Managing the condition is very individualized since symptoms can vary in severity and location.

Treatment modalities may include:

  • Sclerotherapy and/or embolization
  • Surgical debulking of lipomatous masses
  • Orthopedic or neurosurgical procedures to address spinal/skeletal involvement
  • Anti-immunologic medications such as sirolimus

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