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Klippel-Trenaunay syndrome

MIM.149000 5q13.3

Friday 25 July 2003

Definition: The Klippel-Trenaunay syndrome (KTS) is a rare anomaly characterized by naevus, soft tissue hypertrophy, associated deep venous system abnormalities and varicosities. Vascular lesions associate hemangiomata, varicose veins, and both bony and soft tissue hemihypertrophy. Abdominal viscera affected by ipsilateral hemangiomata include colon, liver, spleen, jejunum, kidney, and liver.
Ent. Nom. 1900, Klippel and Trenaunay.

Synopsis

Vascular malformations

- nevus flammeus
- arteriovenous fistulas
- abnormalities of arteries
- capillary-venous malformation
- cutaneous hemangioma
- mediastinal cavernous hemangioma (12554906)
- lymphatic malformations (lymphangioma)
- associated deep venous system abnormalities
- varicosities
- naevus
- soft tissue hypertrophy
- deep venous system abnormalities
- vascular lesions

  • hemangiomatosis (multiple hemangiomas)
    • ipsilateral visceral hemangiomas: colon, liver, spleen, jejunum, kidney, and liver.
  • varicose veins
  • bony hemihypertrophy and soft tissue hemihypertrophy

- asymmetric hemi-hypertrophy of limbs and trunk, macrodactyly, syndactyly, polydactyly, oligodactyly
- soft tissue hypertrophy, soft tissue overgrowth

- hyperpigmented nevi and streak

Complications

- stasis dermatitis
- thrombophlebitis
- cellulitis
- limb disparity
- thrombosis
- bleeding
- pulmonary embolism
- congestive heart failure

References

- Lie JT. Pathology of angiodysplasia in Klippel-Trenaunay syndrome.
Pathol Res Pract. 1988 Nov;183(6):747-55. PMID: 2851776


- MIM.149000