Klippel–Trénaunay syndrome
| Klippel–Trénaunay Syndrome | |
|---|---|
| Other names | KTS or KT |
| MRI | |
| Specialty | Medical genetics |
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome[1] and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy,[2] is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb.[2] It is similar to, though distinct from, the less common Parkes Weber syndrome.
The classical triad of Klippel–Trenaunay syndrome consists of:[3]
- vascular malformations of the capillary, venous and lymphatic vessels;
- varicosities of unusual distribution, particularly the lateral venous anomaly; and
- unilateral soft and skeletal tissue hypertrophy, usually the lower extremity.
It belongs to the PIK3CA-related overgrowth spectrum of diseases which are caused by mutations in the PIK3CA gene.
- ^ "Klippel–Trenaunay syndrome". Archived from the original on July 4, 2013. Retrieved May 15, 2014.
- ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 585. ISBN 978-0-7216-2921-6.
- ^ Karim, Tanweer; Nanda, NavdeepS; Singh, Upvan (2014). "A rare presentation of Klippel–Trenaunay syndrome". Indian Dermatology Online Journal. 5 (2): 154–6. doi:10.4103/2229-5178.131086. PMC 4030342. PMID 24860749.