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Question

Please may I have some information on the Klippel-Trenaunay-Weber syndrome?

Answer

This is a non-heritable disorder which is present at birth. The triad of characteristics is a port-wine stain in combination with bony and soft-tissue hypertropy and venous varicosities. Hypertophy means an increase in size and varicosities are tortuous, dilated veins.

The anomaly is present at birth, and usually involves a lower limb. However, it may involve more than one limb, and portions of the trunk and face.

Enlargement of the soft tissues may be gradual and may involve the entire limb or only a portion of it.

There may be pain, swelling and cellulitis in the affected limb.

Some rare complications are inflammation of the veins, dislocation of joints, gangrene of the affected limb, blood in the urine secondary to vascular anomalies in the urinary tract, rectal bleeding from lesions in the gastrointestinal tract, and malformations of the lymphatic system.

Supportive care includes compression banadages for the varicosities. Surgical treatment may be useful in some, carefully selected patients. Leg-length differences are treated with orthotic devices to prevent the development of spinal problems. Eventually, corrective bone surgery may be needed to treat significant leg-length differences.