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Klippel-Trénaunay-Weber Syndrome
Introduction
Klippel-Trénaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. This triad of anomalies was first described by Klippel and Trénaunay in 1900. Parkes-Weber described an additional case 18 years later that had the triad of findings described by Klippel and Trénaunay and an arteriovenous malformation. The exact pathophysiology and genetic etiology of the disorder are unknown. Treatment consists of symptomatic management.
Disease
Definition
The diagnosis of KTWS is based on clinical findings. The major clinical findings are cutaneous hemangiomas, vascular abnormalities, and hemihypertrophy. To assign a diagnosis of KTWS, two of the three major findings must be present.
Prevalence and Epidemiology
The prevalence of KTWS is 1 : 100,000. It occurs equally in males and females and has no racial predilection.
Etiology and Pathophysiology
The pathophysiology and genetic etiology are unknown. Although a few familial cases and individuals with de novo balanced translocations have been reported, KTWS is generally accepted to be a sporadic disorder with no clear hereditary pattern.
Manifestations of Disease
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