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Klippel-Trenaunay syndrome

Klippel Trenaunay syndrome is a rare congenital disorder characterised by vascular anomalies and life threatening complications. Clinical recognition, prenatal diagnosis and counselling is important in these cases. Here we present a case of Klippel-Trenaunay syndrome and emphasize upon the clinical significance of such cases.

Klippel-Trenaunay syndrome is a group of findings consisting of: multiple port wine stains or other blood vessel malformations (dark spots of skin); excessive growth of bones and soft tissue in the area of increased blood vessels (this may also occur in areas without increased vascularity). This occurs most commonly in the lower limbs, but may affect any limb, the face and head, or internal organs; and varicose veins.

KTS is an association of soft tisssue and bone hypertrophy, cutaneous hemangiomas and superficial varicosities. Klippel-Trenaunay-Wever Syndrome (KTWS) is the association of KTS with arterio-venous fistulae. KTS and KTWS are due to a congenital malformation of the deep venous system with agenesis, hypoplasia or segmental atresia. The etiology is not clear but the syndrome is most likely the result of a diffuse mesodermal abnormality. KTS and KTWS are not hereditary but show some female predominance. Usually KTS and KTWS affect only lower SWOP-Coated extremities, are sometimes bilateral of may also involve the upper extremities. Soft tissue and bone hypertrophy associated with portwine hemangiomas suggest the diagnosis at birth. Varicosities appear later in the disease course. Phlebography and arteriography are necessary to define the extension of the abnormalities and to demonstrate the presence or absence of arterio-venous fistulae. Arterio-venous fistulae worsen the prognosis of the disease.

Patients with Klippel-Trenaunay syndrome frequently manifest additional vascular malformations, which include abnormalities of arteries and lymphatic vessels. Vascular abnormalities are congenital; therefore, they do not respond to agents used in the treatment of hemangiomas, such as prednisone and interferon alpha. Noninvasive imaging (plain radiographs, color duplex ultrasonography, magnetic resonance imaging, and lymphoscintigraphy) is used for diagnosis and ongoing evaluation in patients with Klippel-Trenaunay syndrome. These modalities are particularly useful when surgical intervention is required for arteriovenous malformation or limb length discrepancy. It is important to establish that the deep venous system is not compromised before attempting correction of other defects. Most complications of Klippel-Trenaunay syndrome are related to the underlying vascular pathology, which includes stasis dermatitis, thrombophlebitis, cellulitis, limb disparity, and more serious sequelae as thrombosis, coagulopathy, bleeding, pulmonary embolism, and congestive heart failure. The most common problem is pain due to venous insufficiency or lymphedema, which can usually be managed by elevation, compression garments, and diuretics. Pulsed-dye laser treatments can lighten the nevus flammeus component.

KTS is not life-threatening. Limb enlargement progresses very rapidly until it suddenly stops. The risk of infection is often higher in individuals with vascular abnormalities. There is no cure for KTS. Treatment is symptomatic. Laser surgery can diminish or erase some skin lesions. Surgery may correct discrepancies in limb size, but orthopedic devices may be more appropriate.

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All information is intended for reference only. Please consult your physician for accurate medical advices and treatment. Copyright 2005, health-cares.net, all rights reserved. Last update: July 18, 2005