CLOVES | Symptoms and Causes

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What are the 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 his torso, or “trunk” (usually on his back, flank or abdomen)
  • vascular (blood vessel) malformations—most often, a “port wine stain” birthmark, lymphatic malformation, arteriovenous malformation and/or enlarged veins
  • limb abnormalities (typically, wide feet and/or toes and large or extra fingers/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)

Less common symptoms can include:

  • problems with knee or hip joints
  • kidneys that are unusually small or uneven in size

What causes 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.

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