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老年人中一种新型的广泛性多灶性骨质溶解病变。

A novel entity of massive multifocal osteolyses in the elderly.

作者信息

Orth Patrick, Stahl Phillip Rolf, Tränkenschuh Wolfgang, Baumhoer Daniel, Kehl Tim, Lehnhof Hans-Peter, Schneider Günther, Meese Eckart, Madry Henning, Fischer Ulrike

机构信息

Department of Orthopaedic Surgery, Saarland University Medical Center, D-66421 Homburg, Germany.

Center of Experimental Orthopaedics, Saarland University, D-66421 Homburg, Germany.

出版信息

Bone Rep. 2024 Apr 17;21:101765. doi: 10.1016/j.bonr.2024.101765. eCollection 2024 Jun.

Abstract

Osteolyses are common findings in elderly patients and most frequently represent malignant or locally aggressive bone tumors, infection, inflammatory and endocrine disorders, histiocytoses, and rare diseases such as Gorham-Stout syndrome. We here report on a novel entity of massive multifocal osteolyses in both shoulders, the right hip and left knee joint and the dens of an 83-year-old patient not relatable to any previously known etiopathology of bone disorders. The soft tissue mass is of myxoid stroma with an unspecific granulomatous inflammatory process, aggressively destroying extensive cortical and cancellous bone segments and encroaching on articulating bones in diarthrodial large joints. Radiological, nuclear medical, serological, histological, and immunohistochemical analyses were incapable of further classifying the disease pattern within the existing scheme of pathology. Quantitative polymerase chain reaction and next generation sequencing revealed that mutations are not suggestive of any known hereditary or acquired bone disease. Possible treatment options include radionuclide therapy for pain palliation and percutaneous radiation to arrest bone resorption while surgical treatment is inevitable for pathological fractures. This case study shall increase the awareness of the musculoskeletal community and motivate to collect further information on this rare but mutilating disorder.

摘要

骨质溶解在老年患者中很常见,最常见的病因是恶性或局部侵袭性骨肿瘤、感染、炎症和内分泌紊乱、组织细胞增多症以及罕见疾病,如戈勒姆-斯托特综合征。我们在此报告一例83岁患者双肩、右髋和左膝关节以及齿状突出现大量多灶性骨质溶解的新病例,其与任何先前已知的骨病病因均无关联。软组织肿块为黏液样基质,伴有非特异性肉芽肿性炎症过程,侵袭性地破坏广泛的皮质骨和松质骨段,并侵犯滑膜大关节中的关节骨。放射学、核医学、血清学、组织学和免疫组化分析均无法在现有病理学分类中进一步明确该疾病类型。定量聚合酶链反应和下一代测序显示,这些突变并不提示任何已知的遗传性或获得性骨病。可能的治疗选择包括放射性核素治疗以缓解疼痛和经皮放射治疗以阻止骨质吸收,而对于病理性骨折则不可避免地需要进行手术治疗。本病例研究将提高肌肉骨骼学界的认识,并促使人们收集有关这种罕见但致残性疾病的更多信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7eae/11052910/1b4042a67513/gr1.jpg

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