There are two clinical forms: type I, which is characterized by poikiloderma, ectodermal dysplasia, and juvenile cataracts with unknown etiology, and type II which is characterized by poikiloderma, congenital bone defects, an increased frequency of malignancy (especially osteosarcoma), and RECQL4 (8q24.3) mutation.1 The gene discussed is RECQL4; the disease is osteosarcoma.