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Klippel-Trenaunay syndrome: Clinical manifestations, diagnosis, and management

Authors
Ilona J Frieden, MD
Derek H Chu, MD
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc

INTRODUCTION

Klippel-Trenaunay syndrome (KTS) is a complex congenital disorder characterized by the classic triad of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation [1]. Traditionally, a number of different conditions have been lumped together under the moniker of KTS, including Parkes Weber syndrome and the newly described “diffuse capillary malformation with overgrowth” (DCMO) [2], but clearer descriptions of phenotype and emerging genotypic studies have helped in distinguishing KTS from these other conditions. Based upon the identification of mosaic activating mutations in the PIK3CA gene in patients with KTS, some authors have proposed that KTS be labeled, not as a distinct diagnostic entity, but as a member of the PIK3CA-related overgrowth spectrum (PROS) [3,4].

Klippel-Trenaunay syndrome will be discussed in this topic. The diagnosis and management of capillary malformations and related overgrowth syndromes are discussed separately. (See "Capillary malformations (port wine stains) and associated syndromes" and "PTEN hamartoma tumor syndrome, including Cowden syndrome".)

EPIDEMIOLOGY

Klippel-Trenaunay syndrome (KTS) is rare. Its incidence and prevalence are not known. There is no apparent ethnic or gender predilection.

CLASSIFICATION

Historically, experts have used a variety of broad definitions for Klippel-Trenaunay syndrome (KTS). The term “Klippel-Trenaunay-Weber” was once used to describe patients with features of KTS along with arteriovenous fistulas, when this in fact represented a distinct disorder now called Parkes Weber syndrome.

Some have defined KTS as the presence of any two of three cardinal features, including capillary malformation, soft tissue or bony hypertrophy, and varicose veins or venous malformations [5]. We will use the 2014 updated classification of the International Society for the Study of Vascular Anomalies (ISSVA), which defines KTS as the combination of capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation [1]. However, we acknowledge that many milder cases previously diagnosed as KTS without lymphatic involvement fit better under the diagnosis of diffuse capillary malformation with overgrowth (DCMO) [2].

                                         

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Literature review current through: Nov 2016. | This topic last updated: Thu Jul 14 00:00:00 GMT 2016.
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