Manifestations of Klippel-Trenaunay Syndrome

February 16, 2010

A 7-year-old girl presented with pain and discomfort in the left leg that was exacerbated by physical activity. She had been born with a port-wine stain on the left knee. As her mobility increased, she occasionally complained of discomfort in the left leg. Klippel-Trenaunay syndrome (KTS) was diagnosed at age 3 years after an evaluation for swelling, discoloration, and pain of the left leg. Magnetic resonance angiography and venography had revealed abnormally dilated, tortuous veins in the subcutaneous tissues from the distal thigh to the posterolateral calf with involvement of the proximal anterior tibial muscle. The parents had elected for conservative management with observation.

Child With Leg Pain, Swelling, and Varicosities

ADAM MARTIN, BS, BRIDGET M. BRYER GROFF, MD, BARBARA B. WILSON, MD
University of Virginia School of Medicine, Charlottesville

A 7-year-old girl presented with pain and discomfort in the left leg that was exacerbated by physical activity. She had been born with a port-wine stain on the left knee. As her mobility increased, she occasionally complained of discomfort in the left leg. Klippel-Trenaunay syndrome (KTS) was diagnosed at age 3 years after an evaluation for swelling, discoloration, and pain of the left leg. Magnetic resonance angiography and venography had revealed abnormally dilated, tortuous veins in the subcutaneous tissues from the distal thigh to the posterolateral calf with involvement of the proximal anterior tibial muscle. The parents had elected for conservative management with observation.

At the patient’s current visit, she was noted to have 2 erythematous to bluish vascular plaques on the superior and inferior aspects of the patellar surface with subcutaneous nodular swellings and varicosities predominantly on the lateral aspect of the lower leg. Edema and hypertrophy of the left limb were apparent.

KTS usually has no apparent racial or gender predilection, and studies show no definitive gene localization.1 The presentation varies from mild cases with a small port-wine stain and few varicosities to severe cases with limb overgrowth, pain, recurrent cellulitis, thrombophlebitis, thromboembolism, and visceral bleeding from vascular malformations.2 Capillary malformations are frequently the first abnormality observed. Varicosities most often present when the child begins to walk.2 Limb length discrepancies progress at variable rates but typically stabilize around puberty.3 A variant of KTS, Parkes Weber syndrome presents with an arteriovenous fistula component.4

The workup includes imaging studies to assess the type, extent, and severity of vascular malformations. Doppler ultrasonography is the initial study of choice, although several other methods are available. Evaluation of limb length discrepancy with plain films of the long bones is recommended. MRI is helpful in evaluating soft tissue hypertrophy and may be used to determine the degree of infiltration and evaluate deeper tissues before treatment.2

Because KTS is a combined malformation syndrome, a multidisciplinary approach to management is advised. Treatment depends on disease severity and is largely conservative, focusing on symptom relief.4 Compression therapy can alleviate venous insufficiency and lymphedema, although diuretics may be needed for significant fluid collection. Physical therapy may improve limitations secondary to limb overgrowth. For patients with a leg length difference of less than 1.5 cm, heel inserts or special orthopedic footwear may prevent vertebral scoliosis.5 Patients with a leg length discrepancy of greater than 2 cm should be referred for orthopedic surgery.5 Postoperative anticoagulation should be considered in patients with KTS because they are at higher risk for thrombotic complications.4 Similarly, female patients with KTS are generally advised to avoid oral contraceptives because of their prothrombotic potential.4 Patients with complications, such as infection and thrombus formation (including pulmonary emboli), require appropriate treatment and evaluation for more aggressive intervention.

For patients who do not respond to conservative approaches or who desire more definitive results, other therapies are available. Port-wine stains may be treated with pulsed dye lasers.4 Venous sclerotherapy, stripping, or ligation may be used to treat symptomatic malformations, although recurrence is common.2

For this child, we recommended custom-fit hose with 30 mm Hg compression. She was referred to interventional radiology for consideration of embolization or surgery and to orthopedics for treatment of limb length discrepancy.

The psychological impact of the physical deformity should not be overlooked. We encouraged this patient and her family to participate in a support group (see http://www.ktfoundation.org/ktf_friends. html).

REFERENCES:

1. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008;60: 217-223.
2. Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome: current management. Phlebology. 2007;22: 291-298.
3. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trnaunay syndrome: spectrum and man- agement. Mayo Clin Proc. 1998;73:28-36.
4. Kihiczak GG, Meine JG, Schwartz RA, Janniger CK. Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth. Int J Dermatol. 2006;45:883-890.
5. Gloviczki P, Hollier LH, Telander RL, et al. Surgical implications of Klippel-Trenaunay syndrome. Ann Surg. 1983;197:353-362.

 

Newborn With Port-Wine Stain and Leg Hypertrophy

RICHARD W. HARTMANN Jr, MD
Halifax Medical Center, Daytona Beach, Fla 

This newborn was noted to have an impressive nevus flammeus on the trunk and left lower extremity (A). He was also noted to have subtle hypertrophy of the left lower extremity: his left foot was about 0.5 cm wider and longer than the right (B), and his left leg was 0.75 cm longer than the right. Measurement of the mid thigh circumference and mid calf circumference of both legs also demonstrated hypertrophy of the left limb.

The baby had been delivered vaginally at term. His weight was 3162 g (6.9 lb). Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. The infant had no respiratory distress and no heart murmur. Pulses and blood pressures were normal in all extremities.

A vascular nevus, varicosities, and ipsilateral hypertrophy are all part of Klippel-Trenaunay syndrome (KTS), first described by Klippel and Trenaunay1 in 1900.

The vascular nevus is present at birth, is widespread, and usually involves the trunk and one extremity.2 Varicosities may not be apparent until the infant is ambulatory.3 Limb hypertrophy is usually evident, although subtle, at birth and is progressive, possibly because of increased blood flow.4 The growth affects either bone or soft tissue or both and can encompass an entire limb or be isolated to a single digit. However, hypotrophy of the body part can occur.5

When examining a newborn with an extensive vascular malformation involving a limb, check for asymmetric growth, which is often present at birth. Measure the length and girth of the affected extremity during the initial examination and at every subsequent visit.

The etiology and pathogenesis of KTS are not well understood and remain obscure. The condition should be considered a sporadic event.5

REFERENCES

1. Klippel M, Trenaunay P. Naevus variqueux ostohypertrophique. J Des Praticiens. 1900;14:65-70.
2. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al. Klippel-Trnaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73:28-36.
3. Dohil MA, Baugh WP, Eichenfield LF. Vascular and pigmented birthmarks. Pediatr Clin North Am. 2000;47:783-812, v-vi.
4. Hernndez JA, Morelli JG. Birthmarks of potential medical significance. NeoReviews. 2003;4:e263-e269.
5. Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008;60:217-223.