A Case of Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, which is characterized by poikiloderma and photosensitivity with variable features including alopecia, sparse hair, short stature, skeletal abnormalities, juvenile cataracts, and an increased risk of developing skin and bone malignancies. A 19-year-old man presented with poikilodermatous skin change on the whole body since three months old, and accompanied by photosensitivity, alopecia, and brachydactyly. As far as we know, this is the first case report of Rothmund-Thomson syndrome in Korea.