Klippel-Trenaunay syndrome caused by a mutation in the cells that form lymphatics, veins, and other tissues in a given region.
Klippel-Trenaunay syndrome (KTS) is a congenital circulatory disorder. Klippel-Trenaunay Syndrome is a blood vessel disorder combining cutaneous capillary angioma, extreme growth of the soft tissue and bone, and varicose veins. The syndrome is characterized by a localized or diffuse capillary malformation (portwine stain) that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone hypertrophy. The portwine stain is typically substantial, varicose veins are often quite numerous, and bone and soft tissue hypertrophy is variable. The affected limb is either larger or smaller than the unaffected limb.
Hypertrophy occurs most frequently in the lower limbs, but may affect the arms, the face, the head or inner organs. Symptoms vary according to the severity of the dominant vascular component and its location. The triad consists of hemangiomas, bone and soft tissue hypertrophy, and vein varicosities. Hemangiomas are often apparent at birth, or by two weeks of age. The hemangioma, or nevus, is usually confined to a part of the limb. In other cases, the entire limb is affected by the hemangioma.
Capillary hemangiomas are the most common form and are called port wine stains due to the red and purple color. Bone and squashy tissue hypertrophy is a effect of increased growth around an organ. In several cases, limb length is affected and t he length of the limb is different than the normal limb. Bleeding may occur; frequently as a result of a rectal or vaginal tumor the soft tissue hypertrophy is symmetrical around the affected extremity. In most cases, the girth of the limb is larger, although atrophy is common in several patients. Klippel-Trenaunay Syndrome patients are affected by other symptoms as well.
These symptoms are variably expressed and may not have identical effects on other patients. Treatment of this syndrome can be separated into medical and surgical interventions. Debulking has been the most broadly used treatment for the syndrome, and has been used for decades. Laser therapy may reduce or eliminate port-wine stains. Laser surgery can diminish or erase some skin lesions. Surgical procedures may be necessary to debulk excessive tissue, to excise veins or hemangiomatous tissue or to correct uneven growth in limbs. Radiation may assist to stimulate regression of hemangiomas; however, the results can be slow to develop.
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