Klippel Trenaunay Syndrome KTS is also known as Nevus varicosus osteohypertrophicus syndrome and Hemangiectasia hypertrophicans in medical terms. KTS is characterized by abnormal growth of soft tissue and bones and it involves port wine stains.
Causes :
Exact cause for KTS is unknown. However children can inherit this disorder from their parents and hence can be hereditary. According to Bliznak and Staple, intrauterine damage for sympathetic ganglia can cause this problem. When veins are blocked with blood flow, it may lead to vein abnormalities. There may be some fetal developmental defect in mesoderma according to the theory of Baskerville. Some believe that mesodermal dysplasia and ectodermal dysplasia may account for KTS in children.
There are only few cases to support the theory of autosomal dominant pattern for KTS. When tested for monozygotic twins there was symptoms of KTS due to genetic defect. But it was not seen in hetero-zygotic twins.
People who have angiogenic factor AGGF1 have more risk for getting KTS.
Symptoms :
Varicose veins (thickening of veins in legs and hands) and port wine stains are observed in some patients. Dark spots are seen on the skin surface and visible blood vessel problems are also present in some cases. There may be occasional bleeding from rectum and bloody discharge in urine.