Background: The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features including osteogenic sarcoma.
Case report: A girl developed the classical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from painful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal portion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions was negative. The patient was given chemotherapy and the tumor was resected 45 days later followed by postoperative chemotherapy.
Conclusion: About 12 similar cases of osteosarcoma have been reported in patients with the Rothmund-Thomson syndrome. A review of literature allows to recognize some peculiar features of such association.