Klippel-Trenaunay-Weber syndrome

Definition:

Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding. Most cases arise from sporadic mutations in one or more genes involved in early embryonic angiogenesis.

References:

[1]. Christian B Ricks, et al. Klippel-Trenaunay syndrome and cavernous malformations. BMJ Case Rep. 2014 Oct 7;2014:bcr2014207486. [Content Brief]

[2]. Lata Bhat, et al. Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. Indian Pediatr. 2015 Nov;52(11):987-8. [Content Brief]

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