Atypical Milroy's disease with predominant unilateral involvement: a case report

Milroy's disease (MD), known as hereditary lymphedema type I, is a rare autosomal dominant primary lymphedema. It accounts for about twenty percent of all primary lymphedema. MD typically presents clinically with bilateral lower extremity lymphedema. Our case report describes a rare case of MD presenting with unilateral upper and lower extremity lymphedema in a patient admitted to our clinic. A 24-year-old woman who had been followed for lymphedema since the age of 8 was diagnosed with MD at our hospital by physical examination, venous Doppler ultrasound, whole-body lymphoscintigraphy, and molecular genetic testing. Partial improvement was observed with complete decongestive therapy, considered the gold standard treatment for lymphedema. Genetic counseling may be beneficial for the patient and family. Although MD is uncommon in the literature, many more studies are needed to identify carrier variants in the community.