Osteosarkom i patella hos patienter med Rothmund-Thomsons syndrom

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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.
Original languageDanish
JournalUgeskrift for Laeger
Pages (from-to)1877-8
Number of pages2
Publication statusPublished - 12 Aug 2013

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