Klippel-Trenaunay syndrome


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Klippel-Trenaunay-Weber syndrome

A congenital disease (OMIM:149000) characterised by malformations of capillary (98% of patients), venous (72%) and lymphatic (11%) vessels, as well as bony and soft tissue hypertrophy, leading to large cutaneous haemangiomas with hypertrophy of the related bones and soft tissues.

Molecular pathology
Defects in AGGF1 on 5q13.3, which encodes a protein that promotes angiogenesis and endothelial cell proliferation, are a cause Klippel-Trenaunay syndrome. Other potential Klippel-Trenaunay-Weber syndrome gene loci have been identified at 8q22.3 and 14q13.
References in periodicals archive ?
Disease Location of aneurysm References Behcet's disease Aortic aneurysm, pulmonary [13-18] aneurysm, cerebral aneurysm, coronary aneurysm Kawasaki disease Coronary aneurysm [19-21] Ehlers-Danlos Syndrome Peripheral Varicose veins, [22, 23] abdominal aorta aneurysm Marfan Syndrome Aortic aneurysm [24-26] Klippel-Trenaunay syndrome Peripheral Varicose veins [27] Servelle-Martorell syndrome Venous aneurysm [28, 29]
Ishibashi Hiasa et al., "Successful Management of Pregnancy Complicated by Klippel-Trenaunay Syndrome Using MR Angiography-Based Evaluation," Case Reports in Obstetrics and Gynecology, vol.
Vogelaers, "Hemangiomatosis of the spleen in a patient with Klippel-trenaunay syndrome," JBR-BTR, vol.
Hemodynamic impairment, venousseg mental disease, and clinical severity scoringin limbs with Klippel-Trenaunay syndrome. J Vasc Surg 2007;45:561-7.
The etiology of the Klippel-Trenaunay syndrome. Ann Surg 1985; 202(5):624-7.
Maffessoni, "Klippel-Trenaunay syndrome: case report," Anais Brasileiros de Dermatologia, vol.
Klippel-Trenaunay syndrome is a rare non-hereditary congenital abnormality characterized by a clinical triad of soft tissue hypertrophy of extremity, varicosities and cutaneous hemangiomas or lymphongioma.
Genitourinary hemangiomas have been described in Klippel-Trenaunay syndrome (cutaneous port-wine hemangiomas, varicose veins, and ipsilateral soft tissue and bony hypertrophy of the involved extremities).
Less common causes of varicosities of the leg veins include arterio-venous malformations and congenital anomalies, such as the Klippel-Trenaunay syndrome. The perforating veins contain valves which normally only permit flow from the superficial to the deep system.
Jessica Shakeshaft, who suffers from Klippel-Trenaunay syndrome, has already undergone 32 operations to tackle the rare circulatory disorder which can cause disfigurement of limbs.
Stephen was born with Klippel-Trenaunay syndrome, which affects about 1500 people worldwide.