Klippel-Trenaunay syndrome is a rare congenital medical condition in which blood vessels and lymph vessels fail to form properly. Its classical triad consists of vascular malformations, varicosities in an unusual distribution, and unilateral soft tissue hypertrophy. It manifests through distinctive port wine stains with sharp borders, varicose veins, and hypertrophy of bone and soft tissue that can cause local gigantism, along with an improperly developed lymphatic system; severe cases can bring venous ulceration, blood clots, and heart failure. The syndrome belongs to the PIK3CA-related overgrowth spectrum, caused by mutations in the PIK3CA gene that dysregulate the mTOR pathway, leading to uninhibited mTOR activity and excess cell proliferation. It affects men and women equally and is not limited to any particular racial group.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. Klippel-Trenaunay Syndrome (Wikipedia)
Lead
A rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly.
Lead, cause
Mutations in phosphatidylinositol-4-5-bisphosphate 3 kinase, catalytic subunit (=PIK3CA) gene leads to dysregulation of the MTOR pathway.
Article text
The condition was first described by French physicians Maurice Klippel and Paul Trénaunay in 1900; they referred to it as naevus vasculosus osteohypertrophicus.
View the SourceReader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.