[Osteosarcoma in the patella in a patient with Rothmund-Thomson syndrome]

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. We describe a 31-year-old male known with RTS who had a rare presentation of osteosarcoma in the patella. He initially fractured the patella, and had surgery. On suspicion infection he was treated with antibiotics several times. His condition did not improve, and a biopsy was made consequently. Pathology showed osteosarcoma. The patella was removed, but later the patient had a femur amputation. This case emphasises that patients with rare genetic defects associated with high risk of cancer must be treated by specialists.