Klippel-Trénaunay-Weber syndrome

Description

Klippel-Trenaunay syndrome (KTS) is a rare congenital cutaneous vascular malformation syndrome. Diagnosis is made with two of the three classic signs of localised cutaneous capillary malformations, venous abnormalities, and limb hypertrophy.

Also known as capillary-lymphatic-venous malformation (CLVM). It is associated with a a wide spectrum of clinical findings that can manifest during infancy and can progress throughout childhood and adulthood.

This syndrome is part of the PIK3CA-related overgrowth spectrum of diseases, which are caused by mutations in the PIK3CA gene.

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History

1900 – Maurice Klippel (1858-1942) and Paul Trénaunay (1875-1938) reported a patient with asymmetrical hypertrophy of the soft tissue and bone, together with haemangiomatous lesions of the skin, using the term “naevus variqueux ostéo-hypertrophique”

1907 – Frederick Parkes Weber (1863-1972) described three more cases and proposed the classic triad of “dermal naevi, osseous and soft tissue hemihypertrophy, and varicose veins.“

1918 – Weber revised the description to “hemangiectatic hypertrophy of limbs, congenital phlebarteriectasis and so-called congenital varicose veins“. He added an additional component, congenital arteriovenous fistula. Thereafter the triple-barreled eponym came into use. 

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Associated Persons

• Maurice Klippel (1858-1942)
• Paul Trénaunay (1875-1938)
• Frederick Parkes Weber (1863-1972)

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Alternative names

• Klippel-Trenaunay syndrome (KTS)

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References

Historical references

• Klippel M, Trénaunay P. Du naevus variqueux ostéo-hypertrophique. Archives générales de médecine, 1900; 3: 641-672.
• Weber FP. Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy.
  British Journal of Dermatology. 1907; 19: 231-235.
• Weber FP. Hemangiectatic hypertrophy of Limbs – congenital phlebarteriectasis and so-called congenital varicose veins. British Journal of Children’s Diseases, 1918; 15: 13.

Eponymous term review

• Rotondo C, Corrado A, Mansueto N, Cici D, Corsi F, Pennella A, Paolo Cantatore F. Pfeifer-Weber-Christian Disease: A Case Report and Review of Literature on Visceral Involvements and Treatment Choices. Clin Med Insights Case Rep. 2020 May 27;13:1179547620917958.

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