KLIPPEL-TRENAUNAY SYNDROME

By Gary M. White, MD

Klippel-Trenaunay Syndrome Courtesy Michael O. Murphy, MD


Klippel-Trenaunay Syndrome (KPS) is the triad of a vascular stain, underlying hypertrophy of soft tissue and/or bone and venous varicosities. An underlying lymphatic malformation may be associated. If an AV fistula is present, the term "Parkes Weber Syndrome" is used.

Clinical

A port wine stain (aka capillary malformation)--usually of an extremity--is noted along with underlying soft tissue hypertrophy. Bone length discrepancy may be present. Dysfunction of the lymphatics along with lymphangiomas may be associated.

In one study, the presence of a geographic (vs. blotchy) stain was highly correlated with underlying lymphatic abnormality. In addition, the complication rate was higher in patients with a geographic stain. The definitions were as follows. A geographic stain is sharply demarcated, the shape is irregular, resembling a country or continent and the color is dark red or purple in most cases. A blotchy or segmental stain has an indistinct border in some areas, is often large with a segmental distribution and is light pink or red-pink in color.

Complications

Potential complications include bleeding, cellulitis, ulcers, leg length discrepancy, and severe pain. The bleeding may stem from hemorrhagic, crusted surface lymphatic lesions [JAMA Derm 2016;152;1058].

Treatment

Bone length discrepancy of the legs may be hidden by compensatory scoliosis. Radiographs may be needed to assess bone involvement. An MRI may be done to exclude the presence of an AVM or lymphatic malformation. An orthopedic surgeon should be involved in the care of the patient. Special shoe wear with elevators, etc., may be used for mild cases. Surgery may be needed for more severe leg length discrepancy.

Laser therapy may be considered for the port wine stain although multiple treatments are usually needed and depending upon the size, therapy may be quite involved. If varicose veins begin to appear, compressive hose may be recommended.

If significant bleeding occurs, treatment considerations include surgery, sclerotherapy, catheter embolization and compression. Sirolimus is actively being studied in various complex vascular malformations including KTS [JAMA Derm 2016;152;1058].

Additional Pictures

Klippel-Trenaunay Syndrome Klippel-Trenaunay Syndrome

Photograph courtesy Theodore Sebastian, MD
Klippel-Trenaunay Syndrome

References

Angiokeratoma circumscriptum in a child of Klippel-Trenaunay syndrome: A rare association. Indian J Paediatr Dermatol 2015;16:165-7

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