Klippel Trenaunay Syndrome: Its Spectrum and Management
Anila G. Jacob, M.D. et al., Section of Pediatric Cardiology, Mayo Clinic and Mayo Foundation
[for Professionals mainly]
Klippel Trenaunay syndrome (KTS) is a rare congenital malformation characterized by the triad of arteriovenous or capillary vascular malformations, atypical varicosities, and bony or soft tissue hypertrophy usually affecting one extremity … We reviewed the clinical characteristics and outcome of treatment in 252 patients (116 male and 136 female) with KTS evaluated at the Mayo Clinic between January 1956 and January 1995 … Arteriovenous or capillary vascular malformations (port-wine stains) were found in 246 patients (98 percent), varicosities in 182 (72 percent) … Limb hypertrophy in 170 (67 percent) … Atypical veins, including lateral veins and persistent sciatic vein, occurred in 182 patients (72 percent) ... Varicosities ... can be removed … Provided there is a functioning deep vein system … Klippel and Trenaunay described a syndrome "noevus variqueux osteohypertrophiques" … Non of the patients had a family history of … Fifty-four patients (21 percent) had no treatment. The rest had nonoperative or surgical treatment or a combination of both … Four patients ultimately had resection of portions of the rectosigmoid colon … One hundred forty-five patients had some form of surgical treatment … Some patients did poorly after surgical procedures … Massive lymphedema … Nonhealing wound … Mortality … (1 percent) … Abnormalities can occur in the superficial and the deep venous systems … Oral contraceptives … Avoided by patients with significant venous abnormalities because of the risk of deep venous thrombosis and pulmonary embolus … Congenital Anomalies in 74 Patients with KTS … Skeletal anomalies … Developmental dysplasia of the hip … Dislocation of the elbow … Club foot … scoliosis … Soft tissue anomalies … Fibroma … Hernias … Cardiovascular anomalies ... Mitral valve prolapse … Long QT syndrome … Other … Heterochromia iridis ... Pigmented nevi …

Klippel Trenaunay Weber Syndrome
Victor A. McKusick, Johns Hopkins University, January 8, 2007
[for Professionals mainly]
KTW Syndrome … Klippel Trenaunay … Angioosteohypertrophy Syndrome … Features … Are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder resembles … Sturge Weber syndrome … The 2 have been associated in some cases … Suggestions of a genetic 'cause' are meager … When arteriovenous fistula is also present, the disorder is distinct from the KTW syndrome and might be called Parkes Weber syndrome …

The Klippel - Trenaunay Syndrome Support Group Home Page Founded in 1986 [USA]
[Support Groups]

Port Wine Stains and Women: What you need to Know
[for Professionals mainly] [Support Groups]
After becoming very ill in 1996 during the pregnancy … I began searching for the reason why my birthmark arm had become swollen, painful and was changing size and color … Many women … Had no known trouble with the birthmark until pregnancy or hormone therapy … Klippel-Trenaunay Syndrome is a triad of hypertrophy (the limb gets larger), Port Wine Stain … Parkes - Weber usually includes a "fistula" or an abnormal connection between and artery and vein and may have cardiac involvement due to the extra stress on the heart … Most women … Do not know they are susceptible to very serious hormonal side effects … thrombotic events (blood clots) resulting from childbirth or hormone therapy like oral contraceptives … Do not use birth control pills …

Description of Klippel Trenaunay Syndrome
A rare congenital malformation that may include the following: Port-wine stain or "birthmark" (cutaneous capillary malformations) … Soft tissue and bony hypertrophy (excessive growth of the soft tissue and/or bones) … Venous malformations & lymphatic abnormalities … Complications may include bleeding, cellulitis, venous thrombosis, or pulmonary embolism … Gigantism of toes, hand and feet anomalies, lymphedema, or involvement of the abdominal and pelvic organs may also occur …

Klippel - Trenaunay - Weber syndrome and The Fetus (Illustrated)
Juliana Leite, MD, January 18, 2006
Include hydrops fetalis (from high output cardiac failure) with limbs edema and hypertrophy (fig. 3) (more girth than length), ascites, abnormal abdominal hemangiomatous masses (figs 1-2), and hepatomegaly [6],[7]. A beautiful 3D diagnosis was made recently [8] …

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Last Updated: 2007/11/07

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