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Klippel-Trenaunay-Weber Syndrome Clinical Presentation

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 22, 2016
 

History

Klippel-Trenaunay-Weber syndrome (KTWS) generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is the most common site followed by the arms, the trunk, and rarely the head and the neck. One report describes only upper limb involvement.[11]

Most patients demonstrate all 3 signs of the clinical syndrome: port-wine stain, varicose veins, and bony and soft tissue hypertrophies.

In a series of 252 patients at the Mayo Clinic, 63% of patients had all 3 features and 37% had 2 of the 3 features. Port-wine stain was seen in 98% of patients, varicosities or venous malformations in 72%, and limb hypertrophy in 67%. Atypical veins, including lateral veins and persistent sciatic vein, were present in 72% of patients. Finally, deep venous abnormalities included aneurysmal dilation, hypoplasia, aplasia, and absent or incompetent valves.

An anatomical analysis to determine the frequency of various vascular malformations and abnormal growth and assess any statistical relationship between vascular malformation type/location and abnormal growth in terms of length and girth was performed on 35 patients.[12] Leg bone circumferential hypoplasia was significantly related to the presence of intramuscular lesions. A single subcutaneous venous malformation was linked with subcutaneous hypertrophy.

Brain abnormalities include hemorrhage, infarction, hemimegalencephaly, venous malformation, arteriovenous malformations, cavernoma, aneurysm, hydrocephalus, choroid plexus abnormalities, atrophy, calcifications, leptomeningeal enhancement, cortical dysplasia, and seizures.[13] Pulmonary emboli secondary to venous limb thrombosis are a risk in patients with this syndrome.[14] Cerebral infarctions are rare, as are brain tumors.[15]

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Physical

In Klippel-Trenaunay-Weber syndrome (KTWS), the capillary hemangioma or port-wine stain usually presents first.

This hemangioma has a distinct, linear border that respects the midline. Hemangioma is often noted on the lateral aspect of the limb.

It is typically of the nevus flammeus type, but cavernous hemangiomas or lymphangiomas may also occur. Nevus flammeus is a salmon pink patch, sometimes with a verrucous quality, which evolves to a deep purple color with time. Unlike strawberry hemangiomas, the port-wine stain hemangioma possesses neither a proliferative nor a regressing phase.

Hemangioma depth is variable. It may be limited to the skin or extend deeper to subcutaneous tissue, including muscle and bone. Visceral organs, such as the pleura, the spleen, the liver, the bladder, and the colon may also be affected. Visceral organ involvement portends greater morbidity secondary to internal hemorrhage that may manifest as hematuria or hematochezia.

If large enough, cutaneous hemangiomas may sequester platelets, leading to possible Kasabach-Merritt syndrome, a type of consumptive coagulopathy.[16] The hemangioma often overlies the vascular malformation.

Varicose veins in KTWS are congenital.

The Klippel-Trenaunay vein is a large, lateral, superficial vein sometimes seen at birth. This vein begins in the foot or the lower leg and travels proximally until it enters the thigh or the gluteal area. Otherwise, varicosities may not be clinically evident until the child begins to ambulate.

Varicosities may be extensive, though they often spare the saphenous distribution. They are seen below the knee, laterally above the knee, and occasionally in the pelvic region. Varicosities may affect the superficial, deep, and perforating venous systems.

Surgical exploration has demonstrated atresia and agenesis of deep veins, compression due to fibrous bands, aberrant arteries, abnormal muscles, or venous sheaths.

Rarely, varicosities have been found in the bladder, the colon, and the pulmonary vessels.

Varicosities may remain stable in size or gradually expand. Pain and lymphedema are commonly reported. These symptoms may worsen during pregnancy.

Arteriovenous fistulas, the feature that distinguishes Klippel-Trenaunay syndrome from Parkes-Weber syndrome, are rarely found in the affected extremity.

If present, they can occasionally be palpated as a pulsatile mass, thrill, or bruit on physical examination.

Hyperthermia and a positive Branham sign (bradycardia with the application of compression on an artery proximal to the malformation) are also indicators of an arteriovenous malformation.

Bony and soft tissue hypertrophies are the third sign of KTWS.

Limb hypertrophy can be secondary to increased length (bony involvement) and/or increased girth (soft tissue involvement). Hypertrophy may be appreciated at birth. It usually progresses during the first years of life. A greater degree of hypertrophy may be seen in patients with coexisting arteriovenous malformation. Although lymphedema is also seen in patients, true hypertrophy of the affected soft tissues is present.

Limb discrepancies of as much as 12 cm have been reported.

Occasionally, the involved limb may be atrophied rather than hypertrophied.

Other features include lymphatic obstruction, spina bifida, hypospadias, polydactyly, syndactyly, oligodactyly, hyperhidrosis, hypertrichosis, paresthesia, decalcification of involved bones, chronic venous insufficiency, stasis dermatitis, poor wound healing, ulceration, thrombosis, angiosarcoma, and emboli.[17, 18] Orofacial abnormalities may require specialized dental and anesthesia care.[19]

Magnetic resonance lymphangiography (MRL) with gadobenate dimeglumine as the contrast showed 31 of 32 patients exhibited lymphatic vessel and/or lymph node anomalies, including hyperplasia (11/31), hypoplasia or aplasia (20/31) of lymphatic vessels, and lymphedema (31/31) of the affected limbs. A high concomitance of malformations of the lymphatic system and veins in the affected limbs of were noted in patients with KTS.[20]

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Causes

See Pathophysiology.

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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Texas Medical Association

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Jane H. Lisko, MD, and Frederick Fish, MD, to the development and writing of this article.

References
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Klippel-Trenaunay syndrome in a young person. Note the port-wine stain extending to the buttocks. These lesions can be associated with venous malformations involving the rectum and bladder.
 
 
 
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