Hypotrichosis–lymphedema–telangiectasia syndrome
Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema, the presence of telegiectasias, and hypotrichosis or alopecia. Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.
It is associated with a rare mutation of the transcription factor gene SOX18.
