Milroy's disease - the rarest cause of lymphedema

Milroy'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.