![]() Risk factorsįamily history doesn't seem to be a risk factor, so it's unlikely that parents of one child with KTS will have another child with the disorder, even if one of the parents has KTS. The gene changes occur randomly during cell division in early development before birth. A change in this gene results in overgrowth of tissues. This gene is responsible for the growth of cells and the development of tissues in the body. It involves genetic changes (mutations), most commonly in the PIK3CA gene. It's important to get a prompt, accurate diagnosis and appropriate care to treat symptoms and prevent complications. KTS can also include cataracts, glaucoma, hip dislocation at birth, purple-red skin coloring when cold and blood-clotting problems. Extra lymphatic vessels can be present that don't work properly and can lead to fluid leakage into the tissues and swelling. The lymphatic system - part of the immune system that protects against infection and disease and transports lymphatic fluid - can be malformed. Rarely, there may be fusion of fingers or toes or extra fingers or toes. This overgrowth of bone and tissue creates a larger and longer extremity. This begins in infancy and may be limited to one leg, but it can occur in an arm or, rarely, in the trunk or face. Malformed veins may become more prominent with age. There may be spongy tissue filled with small veins in or under the skin. Deeper malformed veins in the arms, legs, abdomen and pelvis also can occur. ![]() These include swollen, twisted veins (varicose veins), usually on the surface of the legs. The birthmark often covers part of one leg but can involve any portion of the skin. ![]() This pink to reddish-purple birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. People who have KTS may have the following features, which can range from mild to more extensive:
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