Milroys Disease - The Rarest Cause of Lymphedema
Keywords:Milroys Disease, Lymphedema
AbstractMilroy’s disease is an old term used to describe hereditary congenital lymphedema. It is the rarest of the inherited
lymphedema. The cause is a mutation in the VEGFR3 gene and is inherited in an autosomal dominant manner. This
gene has been mapped to the telomeric part of the chromosome 5q in the region 5q34-q35. It is characterized by
lower limb lymphedema, present at birth or developing soon after. It may be associated with intestinal lymphangiectasia
and cholestasis. Here we report a 57 years old male who had been suffering from bilateral leg swelling since birth and
finally leveled as a case of Milroy’s disease by positive family history and excluding other causes of lymphedema. We
present this case due to the rarity of its occurrence.
Keywords: Milroy’s Disease; Lymphedema
J MEDICINE 2010; 11 : 189-192
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