Klippel-Trènaunay-Weber Syndrome Causes, Symptoms, Diagnosis, and Treatment on MedicineNet.com

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home > klippel-trenaunay-weber syndrome index > klippel-trenaunay-weber syndrome article

Klippel-Trènaunay-Weber Syndrome
(KTW)

Medical Author:
David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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Medical Editor:
William C. Shiel Jr., MD, FACP, FACR
William C. Shiel Jr., MD, FACP, FACR
William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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What is Klippel-Trènaunay-Weber (KTW) syndrome?

Klippel-Trènaunay-Weber (KTW) syndrome is a condition characterized by a triad of findings:

  • Port-wine stain or "birthmark" (capillary malformations in the skin)

  • Soft tissue and bony hypertrophy (excessive growth of the soft tissue and/or bones) most often involving a single limb.

  • Vascular anomalies such as varicose veins.

What is a port-wine stain?

A port-wine stain is a certain type of hemangioma. This capillary hemangioma has a recognizable appearance. It is usually a deep violet ("port-wine") colored lesion with fairly linear borders. These are most often found on the affected hypertrophied limb. They are generally flat or only slightly raised compared to the surrounding unaffected skin surface. The actual depth of the lesion is unpredictable and less commonly may even affect muscle and bone.

In addition to the port-wine stain, individuals with Klippel-Trènaunay-Weber also develop varicose veins. These often can be seen at birth as a large superficial vein extending from the lower leg all the way up to the buttocks. This vein has been referred to as the "Klippel-Trènaunay" vein and may not be obvious until later in childhood.

Occasionally affected individuals develop an arteriovenous fistula (abnormal connection between an artery and a vein). This is known as the Parkes-Weber variant of KTW. These patients usually have numerous fistulae that can result in heart failure if untreated.




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