Parkes weber syndrome
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Parkes Weber syndrome is a rare disease, depicted by capillary malformation, venous malformation, arteriovenous malformation and lymphatic malformation in the affected limb, hypertrophy of the bone, as well as soft tissues of the involved limb. Multiple AV malformation of the affected limb will direct to heart failure.
Clinical presentation includes swelling, discomfort and pain. The lower limb is the most frequently involved site. Chronic venous ulcerations and distal arterial ischemia are also presenting symptoms.
It is an autosomal dominant disease. RASA1 gene mutations were noted in a few of the cases of Parkes Weber syndrome.
Treatment and prognosis
Treatment options include patient quality of life improvement, embolization and stenting of affected vessels.
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- 2. K. Namba & S. Nemoto. Parkes Weber Syndrome and Spinal Arteriovenous Malformations. AJNR Am J Neuroradiol. 2013;34(9):E110-2. doi:10.3174/ajnr.A3717 - Pubmed