Hereditary congenital lymphedema (Milroy's disease) is a primary lymphedema that presents early in life.


Genetic defect: mutation in VEGFR3 (Flt4), a tyrosine kinase growth factor with receptors expressed on the lymphatic endothelial cells


Clinical features:

(1) lymphedema which may present in the neonatal period or during infancy

(2) lifelong lymphedema, which may show a regional distribution (giant scrotal edema, etc)

(3) double rows of eyelashes (distichiasis)

(4) other family members affected

(5) aplasia or extreme hypoplasia of superficial lymphatic capillaries (observable by fluorescence microlymphography or other methods, see Bollinger et al)


Differential diagnosis:

(1) other forms of primary lymphedema (such as lymphedema-distichiasis syndrome)

(2) acquired lymphedema


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