ROTHMUND-THOMSON SYNDROME AND OSTEOSARCOM A

Background. - The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features i ncluding osteogenic sarcoma. Case report. - A girl developed the class ical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from pain ful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal po rtion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions war negative. T he patient was given chemotherapy and the tumor was resected 45 days l ater followed by postoperative chemotherapy. Conclusion. - About 12 si milar cases of osteosarcoma have been reported in patients with the Ro thmund-Thomson syndrome. A review of literature allows to recognize so me peculiar features of such association.