Klippel-Trénaunay-Weber Syndrome (KTWS), also known as Klippel-Trénaunay Syndrome, is a rare congenital disorder characterized by a triad of symptoms including port-wine stain birthmarks, varicose veins, and soft tissue and bone overgrowth. This condition primarily affects the skin, blood vessels, and bones, and can lead to a range of symptoms and complications.
One of the hallmark features of Klippel-Trénaunay-Weber Syndrome is the presence of port-wine stain birthmarks. These birthmarks are typically present at birth and appear as flat, pink or red patches on the skin. They are caused by abnormal blood vessels near the surface of the skin, which result in a permanent discoloration. Port-wine stains can vary in size and shape, and may be located anywhere on the body. In some cases, they may cover a large area and can be associated with increased risk of complications.
Another common symptom of Klippel-Trénaunay-Weber Syndrome is the development of varicose veins. These are enlarged, twisted veins that are visible just beneath the surface of the skin. Varicose veins occur due to abnormal blood flow and weakened vein walls. They can cause discomfort, pain, and aching in the affected area. Varicose veins in KTWS are often more severe and extensive than those typically seen in the general population.
Individuals with Klippel-Trénaunay-Weber Syndrome may experience soft tissue and bone overgrowth in the affected limb or area. This overgrowth can lead to an increase in the size and length of the limb, causing asymmetry and functional limitations. The soft tissues, including muscles and skin, may become thicker and larger than normal. Bone overgrowth can result in an abnormal shape or length of the affected bones, leading to skeletal abnormalities.
In addition to the primary symptoms, Klippel-Trénaunay-Weber Syndrome can also involve lymphatic abnormalities. The lymphatic system is responsible for draining excess fluid from tissues, but in KTWS, there may be malformations or blockages in the lymphatic vessels. This can lead to swelling, known as lymphedema, in the affected limb or area. Lymphedema can cause discomfort, heaviness, and increased susceptibility to infections.
While the triad of symptoms mentioned above are the main features of Klippel-Trénaunay-Weber Syndrome, there can be additional associated symptoms and complications. These may include:
It is important to note that the severity and combination of symptoms can vary widely among individuals with Klippel-Trénaunay-Weber Syndrome. Some individuals may have mild symptoms and experience minimal impact on their daily lives, while others may have more severe manifestations requiring medical intervention and ongoing management.