Klippel-Trenaunay syndrome is one of several overgrowth syndromes, including megalencephaly-capillary malformation syndrome, that are caused by mutations in the PIK3CA gene. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. These functions make PI3K important for the development of tissues throughout the body. PI3K plays a role in chemical signaling that is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. This gene provides instructions for making the p110 alpha (p110α) protein, which is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). Klippel-Trenaunay syndrome can be caused by mutations in the PIK3CA gene. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits ( polydactyly ).
#Klipped palle face skin
Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE). Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Varicose veins usually occur on the sides of the upper legs and calves. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Malformations of veins are the third major feature of Klippel-Trenaunay syndrome. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. However, overgrowth can also affect the arms or, rarely, the torso.
Usually this abnormal growth is limited to one limb, most often one leg. Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy.
Occasionally, port-wine stains develop small red blisters that break open and bleed easily. The affected area may become lighter or darker with age. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones.
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