Abstract

Rothmund-Thomson syndrome is a rare autosomal recessive disease that presents with poikiloderma, short stature, alopecia, juvenile cataracts, skeletal abnormalities, and premature skin aging. The manifestation of the disease can begin in the first years of life and people with the syndrome have a greater chance of developing non-melanoma skin cancer. We report a case of late manifestation of the syndrome, treated with acitretin as a preventive measure for skin cancer.

Keywords

rothmund-thomson syndrome, autosomal recessive, acitretin, case report