Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (pronounced klih-PEL treh-noh-NAY) is a rare congenital vascular disorder characterized by a triad of symptoms: port-wine stain birthmark, varicose veins, and hypertrophy of the bones and soft tissues. The syndrome was first described by French physicians Maurice Klippel and Paul Trenaunay in 1900.
Etymology
The term "Klippel-Trenaunay syndrome" is named after the French physicians Maurice Klippel and Paul Trenaunay who first described the condition in 1900. The word "syndrome" comes from the Greek "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
The primary symptoms of Klippel-Trenaunay syndrome include:
- Port-wine stain birthmark: Also known as a nevus flammeus, this is a flat, pink, red, or purple mark that appears at birth, usually on the face, arms, and legs, and continues to grow as the child grows.
- Varicose veins: These are enlarged, twisted veins that are visible under the skin's surface. They are caused by weak or damaged valves in the veins.
- Hypertrophy of bones and soft tissues: This refers to the overgrowth of bones and soft tissues, which can result in one limb (usually a leg) being larger and longer than the other.
Causes
The exact cause of Klippel-Trenaunay syndrome is unknown. However, it is believed to be caused by mutations in the PIK3CA gene. This gene provides instructions for making a protein that plays a crucial role in regulating cell growth and division.
Treatment
Treatment for Klippel-Trenaunay syndrome is symptomatic and supportive. It may include compression therapy to manage swelling and pain, sclerotherapy to treat varicose veins, and surgery to correct differences in limb size.
See also
External links
- Medical encyclopedia article on Klippel-Trenaunay syndrome
- Wikipedia's article - Klippel-Trenaunay syndrome
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