Abstract
Primary lymphedema, which is caused by an intrinsic defect of the lymphatic vessels, can be genetic in origin (aplasia, hypoplasia, hyperplasia, and tortuosities). The most common form of hereditary primary lymphedema is Milroy disease, also known as primary congenital lymphedema. It is a relatively rare disorder, characterized by a firm edema of the lower extremities that can be generalized to the whole leg or limited to the feet or toes [1]. Its inheritance is autosomal dominant, and it is estimated to occur with an incidence rate of approximately 1 in 6000. The only known molecular cause of Milroy disease is mutation in the vascular endothelial growth factor receptor 3 (VEGFR3) gene. The gene locus of this malformation has been mapped to 5q35.3 [2]. In some families, the disorder is completely penetrant, while in others penetrance is incomplete (80e84%), with a male/female ratio of 1:2.3 [3].
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