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.


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

1907Frederick 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. 


Associated Persons

Alternative names
  • Klippel-Trenaunay syndrome (KTS)

References

Historical references

Eponymous term review



eponymictionary

the names behind the name

BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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