Klippel-Trenaunay syndrome
Ming H Jih MD PhD
Dermatology Online Journal 9(4): 31

Clinical summary

History.—A 28-year-old woman had a problem on the right lower extremity since birth. The patient presented to the Bellevue Hospital Medical Center dermatology clinic for evaluation of a large birthmark on the right leg. The right leg was also longer than the left leg necessitating use of a prostheses to adjust for the height difference between the two sides. There was also occasional mild pain that was alleviated by the use of compression stockings. The patient was initially evaluated by a vascular surgeon and told that surgery was not necessary. However, the lesion was of cosmetic concern to the patient, who had been treated as a teen with the argon laser with minimal improvement.

Physical examination.—A large, irregular, violaceous-to-erythematous patch covered an extensive portion of the entire right lower extremity. There was some soft-tissue hypertrophy and clinically evident limb-length discrepancy. No other similar lesions were noted on the patient's skin. No hyperthermia or thrill was appreciated.

Figure 1	Figure 2

Laboratory data.—None.

Histopathology.—None.

Diagnosis.—Klippel-Trenaunay syndrome.

Comment

Klippel-Trenaunay syndrome or nevus vasculosus hypertrophicus, is characterized by a triad of extensive capillary malformation, underlying venous varicosities, and underlying soft-tissue or bony hypertrophy [1]. The capillary hemangioma or port-wine stain usually presents first. This hemangioma has a distinct, linear border that respects the midline and is often increased on the lateral aspect of the limb. It is typically of the nevus flammeus type, but cavernous hemangiomas or lymphangiomas may also occur [1]. Hemangioma depth is variable. It may be limited to the skin or extend deeper to subcutaneous tissue, muscle, bone, and visceral organs, which may lead to internal hemorrhage that may manifest as hematuria or hematochezia. The lower limb is the site of malformation in approximately 95 percent of patients [1, 2]. The hypertrophy involves the length as well as the circumference of the involved extremity and is caused by local hyperemia and venous stasis secondary to the vascular anomaly. A variant in which arteriovenous malformations are also found is known as the Klippel-Trenaunay-Weber syndrome.

Patients with Klippel-Trenaunay syndrome frequently manifest additional vascular malformations of arteries and lymphatic vessels. Vascular abnormalities are congenital and thus do not respond to agents used in the treatment of hemangiomas, such as prednisone and interferon-α. Noninvasive imaging (plain radiographs, color duplex ultrasonography, magnetic resonance imaging, and lymphoscintigraphy) is used for diagnosis and ongoing evaluation.

Complications of Klippel-Trenaunay syndrome include stasis dermatitis, thrombophlebitis, cellulitis, limb disparity, and more serious sequelae such as thrombosis, coagulopathy, bleeding, pulmonary embolism, and congestive heart failure. Management of this syndrome can be divided into medical and surgical interventions.

Treatment is conservative and symptomatic. Compression garments are indicated for chronic venous insufficiency, lymphedema, recurrent cellulitis, and recurrent bleeding. Persistent hematochezia, hematuria, and vaginal and esophageal bleeding are considered indications for surgical intervention. For management of limb hypertrophy, heel inserts are generally sufficient for limb discrepancies of less than 1.5 cm. For greater discrepancies, orthopedic surgery may be considered.

Pulsed-dye laser treatments can lighten the superficial hemangioma component [3]. However, the deeper vascular malformations are often inadequately treated. Their large size is also a factor that hinders rate of clearing with laser treatment. A previous study showed that vascular malformations larger than 100 cm² achieved approximately 50 percent clearing in only 36.5 percent of patients [4]. Second-generation pulsed-dye lasers have long pulsed widths, which, along with the dynamic cooling device, allows for safe use at higher fluences and greater clinical improvement. The patient is currently undergoing successive laser treatments with the 595-nm V-beam long-pulsed-dye laser with clinical improvement of the skin lesions.

© 2003 Dermatology Online Journal