CLOVES syndrome

CLOVES Syndrome is an extremely rare overgrowth syndrome, with complex vascular anomalies. Currently CLOVES Syndrome affects approximately 55 people worldwide with various symptoms ranging from mild soft-tissue tumors to Vascular Malformations encompassing the spine or internal organs. CLOVES Syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel-Trénaunay-Weber syndrome, Sturge-Weber syndrome, and hemihypertrophy, to name a few.

'CLOVES' is an acronym for:^[1][2]

• C is for congenital.
• L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most CLOVES patients present with a soft fatty mass at birth, often visible on one or both sides of the back, legs and/or abdomen.
• O is for overgrowth, because there is an abnormal increase in the size of the body or a body part that is often noted at birth. Patients with CLOVES may have affected areas of their bodies that grow faster than in other people. Overgrowth of extremities (usually arms or legs) is seen, with large wide hands or feet, large fingers or toes, wide space between fingers, and asymmetry of body parts.
• V is for vascular malformations, which are blood vessel abnormalies. Patients with CLOVES have different venous, capillary, and lymphatic channels - typically capillary, venous and lymphatic malformations are known as "slow flow" lesions. Some patients with CLOVES have combined lesions (which are fast flow) and some have aggressive vascular malformation known as arteriovenous malformations (AVM). The effect of a vascular malformation varies per patient based on the type, size, and location of the malformation, and symptoms can vary.
• E is for Epidermal naevi, which are sharply-circumscribed chronic lesions of the skin, and benign. These are often flesh-colored, raised or warty.
• S is for Spinal/Skeletal Anomalies or scoliosis. Some patients with CLOVES have tethered spinal cord, vascular malformations in or around their spines, and other spinal differences. High-flow aggressive spinal lesions (like AVM) can cause serious neurological deficits/paralysis.

It is believed that the first description of a case of CLOVES syndrome was written by Hermann Friedberg, a German physician, in 1867.^[3][4]

References

1. ↑ "CLOVES Syndrome". clovessyndrome.org. 
2. ↑ Boston Childrens Hospital 2013. "CLOVES Syndrome - Boston Children's Hospital". childrenshospital.org. 
3. ↑ "CLOVES Syndrome". National Organization for Rare Diseases. Retrieved 24 March 2015. 
4. ↑ Alomari, AI; Thiex, R; Mulliken, JB (October 2010). "Hermann Friedberg's case report: an early description of CLOVES syndrome". Clinical Genetics 78 (4): 342–347. doi:10.1111/j.1399-0004.2010.01479.x.