颅面部肿瘤所致低磷软骨病2例并文献复习

目的通过对肿瘤相关性低磷软骨病（tumor-induced osteomalacia,TIO）的病例报道并文献复习,深化对该疾病的认识。方法本文报告2例中年女性病例,以往被误诊为类风湿关节炎,最终确诊为颅面部肿瘤所致TIO。病例1表现为弥漫性骨痛及肌无力4年,右眼内斜复视1个月;病例2表现为腰部及髋部骨痛伴进行性加重。生化检查均提示低血磷及尿磷排出增加。影像学检查在病例1和病例2中分别发现右侧颞骨岩尖部浸润性肿块和左侧鼻腔及筛窦软组织肿块。结果病例2的肿物被完全切除而病例1的肿物切除不完全。术后病理诊断均为混合结缔组织亚型的磷酸盐尿性间叶肿瘤。结论若患者表现为无法解释的持续低磷软骨病,应想到TIO的可能性（包括颅面部肿瘤引起的TIO）,确诊依据病理,主要依靠手术治疗。

Craniofacial tumor-induced osteomalacia:A report of 2 cases and literature review

Objective To deepen the understanding of tumor-induced osteomalacia（TIO） by reporting its cases and reviewing its relative literature.Methods Two middle-aged female cases of craniofacial TIO misdiagnosed as rheumatoid arthritis were reported.Case 1 was manifested as diffuse bone pain and muscle weakness for 4 years with right eye esotropia for 1 month.Case 2 was manifested as progressive bone pain in low back and hip for 2 years.Laboratory biochemical test showed hypophosphatemia and increased excretion of urophosphorus.Radiological examinations revealed an infiltrative tumor mass in right apex partis petrosae ossis temporalis in case 1,and a soft mass in left nasal cavity and ethmoid sinuses in case 2.Results The tumor was completely removed in case 2 and incompletely removed in case 1,which was pathologically diagnosed as a mixed connective tissue variant phosphaturic mesenchymal tumor.Conclusion The diagnosis of TIO including craniofacial TIO can be established by pathology when the patient is manifested as unexplained persistent osteomalacia and treated mainly by surgery.