Cammarata-Scalisi F, Rodríguez AR, Orellana M, Julio PLM, Salas D

Language: Spanish
References: 16
Page: 94-98
PDF size: 386.19 Kb.

ABSTRACT

Milroy disease is a rare and hereditary form of lymphedema with autosomal dominant inheritance. Is characterized by congenital onset in the lower limbs due to hypoplasia of the lymphatic vessels. The most cases is caused by mutation in vascular endothelial growth factor receptor 3 (VEGFR3), is a member of the tyrosine kinase receptor family, that activated by the vascular endothelial growth factor: VEGF-C and VEGF-D, is required for lymphatic development during embryogenesis. We report the case of a three year-old boy evaluated with clinic findings of Milroy disease in the left upper limb, the differential diagnosis and genetic considerations were discussed.

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