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Klippel-Trenaunay syndrome

  • Definition
    • Klippel-Trenaunay syndrome is a rare condition that is typically present at birth. The syndrome often involves port wine stains, excess growth of bones and soft tissue, and varicose veins.

  • Alternative Names
    • Klippel-Trenaunay-Weber syndrome; KTS; Angio-osteohypertrophy; Nevus varicosus osteohypertrophicus syndrome; Hemangiectasia hypertrophicans; Nevus verucosus hypertrophicans

  • Causes
    • Most cases of Klippel-Trenaunay syndrome occur for no apparent reason. However, a few cases are thought to be passed down through families (inherited).

  • Symptoms
    • Symptoms of Klippel-Trenaunay syndrome include:

      • Many port wine stains or other blood vessel problems, including dark spots on the skin
      • Varicose veins (may be seen in early infancy, but are more likely to be seen later in childhood or adolescence)

      Other possible symptoms:

      • Bleeding from the rectum
      • Blood in the urine
  • Exams and Tests
    • People with this condition may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs.

  • Support Groups
    • It may be helpful to join a support group in which members share common problems and concerns.

      The following organizations provide further information on Klippel-Trenaunay syndrome:

  • Outlook (Prognosis)
    • Most people with Klippel-Trenaunay syndrome do well, although the condition may affect their appearance. Some people have psychological problems from the condition.

      There can sometimes be abnormal blood vessels in the abdomen, which may need to be evaluated.

  • References
    • James WD, Berger TG, Elston DM. Dermal and subcutaneous tumors. In: James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 12th ed. Philadelphia: PA: Elsevier; 2016:chap 28.

      Longman RE. Klippel-Trénaunay-Weber syndrome. In: Copel JA, D'Alton ME, Gratacós E, et al, eds. Obstetric Imaging. Philadelphia, PA: Elsevier Saunders; 2012:chap 132.

      Martin KL. Vascular disorders. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 650.