Important It is possible that the main title of the report Klippel-Trénaunay Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Summary Klippel-Trénaunay syndrome (KTS) is a rare disorder that is present at birth (congenital) and is characterized by a triad of cutaneous capillary malformation ("port-wine stain"), lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone. KTS occurs most frequently in the lower limb and less commonly in the upper extremity and trunk. KTS equally affects males and females.
Introduction The eponym KTS has generated controversy in the medical literature since the first report of the condition in the early 20th century. The French physicians, Klippel and Trénaunay, described patients with capillary stains (improperly called "hemangiomas" at that time), venous varicosities, and overgrowth. At about the same time, the English dermatologist Parkes Weber reported the combination of "hemangiomas" and overgrowth of a limb. For many years, the names of all three physicians were linked as a confusing (and incorrect) term "Klippel-Weber-Trénaunay syndrome," which still is (unfortunately) used to this day.
Since the latter 20th century, it is well-recognized that Parkes Weber and Klippel-Trénaunay syndromes are entirely different. Parkes Weber syndrome consists of fast-flow, multiple microscopic arteriovenous connections with variable capillary staining of an enlarged limb (usually the lower extremity). By genetic testing, many of these patients have a dominant, germline mutation in the gene RASA1.
In contrast, KTS is a slow-flow combined vascular disorder involving abnormal capillaries (C), lymphatics (L) and veins (V). Therefore, many investigators use the abbreviation CLVM, rather than KTS, and restrict the designation for patients who have all three vascular anomalies. Other authors apply the KTS term more broadly and include patients with only capillary stain (CM) or only capillary and venous anomalies (CVM) in the limb in the absence of lymphatic abnormalities.
Once the genetic cause for KTS is discovered, it will be possible to more precisely designate patients with these various combinations of vascular anomalies.
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Klippel-Trenaunay Support Group 1471 Greystone Lane Milford, OH 45150 Tel: (513)722-7724 Fax: (952)925-2596 Email: firstname.lastname@example.org Internet: http://www.k-t.org
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
National Organization of Vascular Anomalies PO Box 38216 Greensboro, NC 27438-8216 Email: firstname.lastname@example.org Internet: http://www.novanews.org
Hemihypertrophy Support 4581 Magnolia Dr. Suffolk, VA 23435 Tel: (757)615-3686 Email: email@example.com Internet: http://www.hemisupport.com
Venous Disease Coalition 1075 S. Yukon Street, Suite 320 Suite 320 Lakewood, CO 80226 Tel: (303)989-0500 Fax: (303)989-0200 Tel: (888)833-4463 Email: firstname.lastname@example.org Internet: http://www.venousdiseasecoalition.org
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