Smidt Kate, Nissen Nis, Sommerlund Mette, Jørgensen Peter Holmberg
Ortopædkirurgisk Afdeling, Kolding Sygehus, Sygehus Lillebælt, 6000 Kolding, Denmark.
Ugeskr Laeger. 2013 Aug 12;175(33):1877-8.
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.
罗思蒙德-汤姆森综合征（RTS）是一种罕见的常染色体隐性遗传性皮肤病。我们描述了一名31岁患RTS的男性，他髌骨出现骨肉瘤这一罕见表现。他最初髌骨骨折并接受了手术。因怀疑感染，他多次接受抗生素治疗。病情未改善，随后进行了活检。病理显示为骨肉瘤。髌骨被切除，但后来患者进行了股骨截肢。该病例强调，患有与癌症高风险相关的罕见遗传缺陷的患者必须由专科医生治疗。
