Klippel-Trénaunay-Weber syndrome

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A rare syndrome characterized by unilateral congenital capillary and cavernous haemangiomatous malformations of the arteriovenous system, syndactyly, overgrowth of certain fingers, and osteohypertrophic changes of one extremity.

Description

Varicose veins usually involve the legs, buttocks, abdomen, and lower trunk. Vascular anomalies may be present at birth or may appear in infancy. As the child grows the involved limb may hypertrophy and various veins may appear. There is often mild mental retardation.

Majority of reported cases are sporadic, and the genetic basis of the syndrome, if any, is uncertain.

Previously observed in 1832 by Isidore Geoffroy Saint-Hilaire (1805-1861). In 1900 Klippel and Trenaunau reported a patient with asymmetrical hypertrophy of the soft tissue and bone, together with haemangiomatous lesions of the skin, using the term "naevus variqueux osteohypertrophique”. Parkes Weber in 1907 described three more cases and promulgated the classic triad of dermal naevi, osseous and soft tissue hemihypertrophy, and varicose veins. I 1918 Weber added the additional component of arteriovenous fistulae and thereafter the triple eponym came into use. Petschelt in 1953 reviewed 50 cases from the literature and added two additional ones.

Bibliography

  • I. Geoffroy-Saint Hilaire:
    Histoire générale et particulière des anomalies de l’organisation chez l’homme et les animaux, ouvrage comprenant des recherches sur les caractères . . les lois et les causes des monstrosités . . ou traité de tératologie.
    3 volumes, Paris, 1832-1836; Atlas, 1837.
  • M. Klippel, P. Trénaunay:
    Du naevus variqueux ostéohypertrophique.
    Archives générales de médecine, Paris, 1900, 3: 641-672.
  • F. P. Weber:
    Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy.
    British Journal of Dermatology, Oxford, 1907; 19: 231-235.
  • Hemangiectatic hypertrophy of Limbs - congenital phlebarteriectasis and so-called congenital varicose veins.
    British Journal of Children’s Diseases, 1918; 25: 13.
  • E. A. Konrad, P. Mesiter:
    F. P. Weber-Syndrom. Definition und differentialdiagnostische Abgrenzung.
    Der Pathologe, Heidelberg, 1981, 2: 103-105.

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