Different lymphscintigraphic patterns in patients with lymphedema distichiasis.

Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD). Subjects with LD usually present with lower extremity lymphedema and distichiasis--an additional row of eyelashes. Typically, lymphscintigrams of patients with LD show good transport of the radiotracer from the feet to the inguinal lymph nodes accompanied by reflux of tracer to the skin of the lower extremities ("dermal backflow"). We have examined two patients with LD syndrome and were able to demonstrate two different distinct lymphscintigraphic patterns: lymphatic hyperplasia with reflux and obstructive.