Modern rheumatology case reports最新文献_第3页

Multifocal osteonecrosis due to the synergistic impact of inherited thrombophilia, autoimmunity, and pregnancy: A case report. 遗传性血栓性疾病、自身免疫和妊娠的协同作用导致多灶性骨坏死：病例报告。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae063

Jayakrishnan C Menon, Nachiketa Parmar, Kausik Mandal, Prabhaker Yadav, Rajanikant Yadav, Subhash Yadav

{"title":"Multifocal osteonecrosis due to the synergistic impact of inherited thrombophilia, autoimmunity, and pregnancy: A case report.","authors":"Jayakrishnan C Menon, Nachiketa Parmar, Kausik Mandal, Prabhaker Yadav, Rajanikant Yadav, Subhash Yadav","doi":"10.1093/mrcr/rxae063","DOIUrl":"10.1093/mrcr/rxae063","url":null,"abstract":"Multifocal osteonecrosis is a rare entity which can lead to bone fragility, fractures, and considerable morbidity. The objective of this report is to describe the presentation, evaluation, and management of a case of multifocal osteonecrosis. A 34-year-old lady presented with multiple fractures and bone pain which was exacerbated during pregnancy. She was found to have osteonecrosis involving multiple sites. Investigation revealed that she had an undefined autoimmune condition with antinuclear antibody and anti-Ro (SS-A) positivity, not fulfilling criteria for diagnosis of Sjogren syndrome. She had low Protein S (PS) levels for age and gender (confirmed on two occasions 12 weeks apart outside pregnancy). She had a novel variant in the PROS1 gene (NM_000313.4:c.1513 G > A; p.Gly505Ser) which is associated with heterozygous PS deficiency. She had a good response to treatment with anticoagulation. The combination of inherited thrombophilia, autoimmunity, and the thrombophilic state induced by pregnancy probably contributed to the severe phenotype in this patient. The variant was identified in the Lamin G1 domain, which is instrumental in PS binding to tissue factor pathway inhibitor and C4-binding protein, thus playing a role in both the coagulation and complement pathway, and could explain the coexistence of autoimmunity with thrombophilia. This variant is present in 0.034% of South Asians in the gnomAD population database, and may represent an important cause of inherited thrombophilia in this group.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"46-52"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of immunoglobulin G4-related disease complicated by atopic dermatitis responsive to upadacitinib treatment. 一例对乌达替尼治疗敏感的特应性皮炎并发免疫球蛋白 G4 相关疾病病例

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae047

Katsuhide Kusaka, Shingo Nakayamada, Kentaro Hanami, Aya Nawata, Yoshiya Tanaka

{"title":"A case of immunoglobulin G4-related disease complicated by atopic dermatitis responsive to upadacitinib treatment.","authors":"Katsuhide Kusaka, Shingo Nakayamada, Kentaro Hanami, Aya Nawata, Yoshiya Tanaka","doi":"10.1093/mrcr/rxae047","DOIUrl":"10.1093/mrcr/rxae047","url":null,"abstract":"Immunoglobulin G4-related disease (IgG4-RD) is mainly treated with glucocorticoids. In many cases, this disease is resistant to glucocorticoids, and their toxicity can be a problem. We encountered a patient with IgG4-RD affecting multiple organs (such as the skin, lung, and lacrimal gland), who had comorbidities, including atopic dermatitis and diabetes. In this case, while glucocorticoid tapering was difficult, the introduction of upadacitinib resulted in the remission of both atopic dermatitis and IgG4-RD without glucocorticoid dose escalation. Peripheral blood flow cytometry analysis showed that the proportions of activated non-Th1/Th17 cell subset (Th2 cells), follicular helper T cells, and plasmocytes were increased before upadacitinib therapy, but all normalised after treatment. Interleukin-4 and interleukin-21 signals are important for the differentiation of CD4+ T cells into type 2 helper T or B cells in the peripheral blood. Our case suggested that inhibition of Janus kinase 1, which mediates these signals, might have contributed to improved pathological conditions in IgG4-RD.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"207-213"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142038131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Idiopathic multicentric Castleman disease-TAFRO after COVID-19: A case report. COVID-19之后的特发性多中心卡斯特曼病--TAFRO：病例报告

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae045

Tatsuro Shiina, Eriko Kashihara Yamamoto, Hirotaka Yamada, Sho Sendo, Maki Kanzawa, Jun Saegusa

引用次数: 0

Bilateral atypical femur fracture in a patient with breast cancer taking zoledronic acid and denosumab: A case report. 一名服用唑来膦酸和地诺单抗的乳腺癌患者双侧非典型股骨骨折：病例报告。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae059

Kazuhiko Hashimoto, Tomohiko Ito, Yuto Yamagishi, Koji Goto

引用次数: 0

Deciphering the association between biopsy-confirmed systemic small vessel vasculitis and Epstein-Barr virus-positive polymorphic B-cell lymphoproliferation. 解读活检证实的全身性小血管炎与 Epstein-Barr 病毒阳性多态 B 细胞淋巴细胞增殖之间的关联。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae028

Atsuhiko Sunaga, Takahiro Seno, Satoshi Omura, Takuya Inoue, Aya Miyagawa-Hayashino, Ikoi Omatsu, Makoto Wada, Masataka Kohno, Yutaka Kawahito

{"title":"Deciphering the association between biopsy-confirmed systemic small vessel vasculitis and Epstein-Barr virus-positive polymorphic B-cell lymphoproliferation.","authors":"Atsuhiko Sunaga, Takahiro Seno, Satoshi Omura, Takuya Inoue, Aya Miyagawa-Hayashino, Ikoi Omatsu, Makoto Wada, Masataka Kohno, Yutaka Kawahito","doi":"10.1093/mrcr/rxae028","DOIUrl":"10.1093/mrcr/rxae028","url":null,"abstract":"The Epstein-Barr virus (EBV) is associated with various lymphoproliferative disorders (LPDs). Additionally, EBV infection has correlated with diverse autoimmune diseases. However, the association between EBV and systemic small vessel vasculitis (SVV) remains controversial. Here, we report a case of SVV with pauci-immune glomerulonephritis accompanied by an EBV-positive polymorphic B-cell LPD, not otherwise specified. The intricate distinction between EBV-positive B-cell LPD and SVV was difficult, as both diseases demonstrated similar clinical presentations. Lymph node and kidney biopsies facilitated the accurate diagnosis of these two conditions. The administration of high-dose prednisolone, combined with rituximab, proved efficacious, with no instances of relapse over the subsequent 2-year period. This case indicates an association between EBV-positive B-cell LPD and SVV. The diligent execution of biopsies is a crucial diagnostic and interpretive strategy, generating precise comprehension of this condition and guiding its appropriate therapeutic management.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"117-121"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Possible usefulness of fluorodeoxyglucose positron emission tomography in diagnosing polyarteritis nodosa: A case report and literature review. 氟脱氧葡萄糖正电子发射断层扫描在诊断结节性多动脉炎中的可能用途：病例报告和文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae044

Toshitaka Yukishima, Shin-Ichiro Ohmura, Haruka Yonezawa, Motoyuki Katayama, Yoshiro Otsuki, Toshiaki Miyamoto, Noriyoshi Ogawa

{"title":"Possible usefulness of fluorodeoxyglucose positron emission tomography in diagnosing polyarteritis nodosa: A case report and literature review.","authors":"Toshitaka Yukishima, Shin-Ichiro Ohmura, Haruka Yonezawa, Motoyuki Katayama, Yoshiro Otsuki, Toshiaki Miyamoto, Noriyoshi Ogawa","doi":"10.1093/mrcr/rxae044","DOIUrl":"10.1093/mrcr/rxae044","url":null,"abstract":"Polyarteritis nodosa (PAN) is a systemic rheumatic disease that affects medium-sized arteries. PAN is typically not associated with anti-neutrophil cytoplasmic antibodies and has no serological surrogate markers. Therefore, its diagnosis requires pathological findings. However, the positive rate of biopsy in diagnosing PAN is not high, and the biopsy area is often limited. Several investigators have reported the usefulness of imaging findings in diagnosing PAN, independent of pathological findings. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET)/CT has recently been approved for the diagnosis of large-vessel vasculitis in Japan. Several studies have also demonstrated the usefulness of FDG-PET/CT in diagnosing medium-vessel vasculitis. However, no studies have evaluated the usefulness of FDG-PET/CT for diagnosing PAN compared to other modalities, and it is not clear whether FDG-PET/CT is superior to other modalities for diagnosing PAN. Herein, we report a case of PAN and compare the usefulness of FDG-PET/CT with other modalities in diagnosing PAN.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"137-142"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-asparaginyl-tRNA synthetase antibody-positive pneumonitis in a patient with immune checkpoint inhibitor treatment: A case report and literature review. 一名接受免疫检查点抑制剂治疗的患者的抗天冬酰胺酰 tRNA 合成酶（Anti-KS）抗体阳性肺炎：病例报告与文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae043

Nobuhiro Oda, Okuto Koguchi, Hiroki Kontani, Jun Hayashi, Ryo Hazue, Yu Oyama, Ryo Rokutanda

引用次数: 0

Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease. 抗-KS和抗-TIF1-γ抗体同时存在于间质性肺病快速进展的临床淀粉样变性皮肌炎中。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae033

Yuichiro Ota, Toshiki Ohisa, Akira Ishii, Mai Sugiyama, Yasushi Kondo, Ayumi Nishikawa, Noriko Sasaki, Chiho Yamada, Shinji Sato

{"title":"Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease.","authors":"Yuichiro Ota, Toshiki Ohisa, Akira Ishii, Mai Sugiyama, Yasushi Kondo, Ayumi Nishikawa, Noriko Sasaki, Chiho Yamada, Shinji Sato","doi":"10.1093/mrcr/rxae033","DOIUrl":"10.1093/mrcr/rxae033","url":null,"abstract":"Polymyositis/dermatomyositis (DM) is an idiopathic inflammatory myopathy manifesting mainly as symmetrical proximal muscle weakness and/or typical cutaneous features due to autoimmune mechanisms. Clinically amyopathic dermatomyositis (CADM) is a subset of DM that exhibits only the typical cutaneous features without any clinical muscle symptoms. Several autoantibodies have been found specifically in patients with polymyositis/DM, including CADM patients. The anti-KS antibody is one of a group of anti-aminoacyl transfer RNA antibodies that are mainly associated with fever, Raynaud's phenomenon, polyarthritis, and interstitial lung disease (ILD), whereas anti-TIF1-γ antibody is frequently found in DM patients with malignancy. Here, we report a CADM patient having both anti-KS antibody and anti-TIF1-γ antibody. This patient developed an acute exacerbation of ILD and was successfully treated with high-dose corticosteroid pulse therapy together with immunosuppressive agents. Although earlier experience had indicated that the seminal characteristic of anti-KS-positive ILD was slowly developing disease onset with little or no progression over the clinical course, the present patient suffered rapidly progressive disease.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"79-83"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Successful treatment of anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis with rapidly progressive interstitial lung disease complicated by bilateral breast cancer following the additional tofacitinib: A case report. 成功治疗抗黑色素瘤分化相关基因 5 (MDA-5) 抗体阳性皮肌炎伴快速进展性间质性肺病并发双侧乳腺癌的病例报告：病例报告。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae060

Takashi Yamane, Midori Kitayama

{"title":"Successful treatment of anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis with rapidly progressive interstitial lung disease complicated by bilateral breast cancer following the additional tofacitinib: A case report.","authors":"Takashi Yamane, Midori Kitayama","doi":"10.1093/mrcr/rxae060","DOIUrl":"10.1093/mrcr/rxae060","url":null,"abstract":"Anti-melanoma differentiation-associated gene 5 (MDA-5) antibody-positive dermatomyositis (MDA5-DM) often causes rapidly progressive interstitial lung disease (RP-ILD). Although cancer complications in MDA5-DM are less frequently reported compared to other forms of DM, they do occur. For MDA5-DM patients with cancer, particularly in paraneoplastic settings, the primary treatment strategy often targets the malignancy first. However, surgery, chemotherapy, and radiotherapy carry significant risks of exacerbating ILD, especially in patients with respiratory failure. Despite improved prognosis with initial immunosuppressive combination therapy, some cases of MDA5-DM with RP-ILD remain refractory to treatment. Recent studies have shown the potential benefit of Janus kinase (JAK) inhibitors for refractory cases, though their impact on cancer progression remains a concern. We report a 48-year-old woman with MDA5-DM, RP-ILD, and bilateral breast cancer. Due to her respiratory condition, radical surgery and chemotherapy were initially not possible. Endocrine therapy and immunosuppressive therapy were administered, but the disease remained refractory. Tofacitinib, combined with plasma exchange, improved her ILD, allowing for bilateral mastectomy. One year later, MDA5 antibody titers became negative, and glucocorticoids were discontinued after two years. Three years later, neither MDA5-DM nor breast cancer has recurred. This is the first report of MDA5-DM complicated by breast cancer, and the first use of JAK inhibitors in such a case. Effective treatment requires close collaboration with oncologists to balance the risks and benefits of therapy in cases of MDA5-DM with RP-ILD and cancer.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"93-99"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Granulomatosis with polyangiitis with lacrimal gland enlargement and pancreatic swelling: A case report and a literature review. 肉芽肿伴多血管炎伴泪腺肿大和胰腺肿胀：病例报告和文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae066

Tetsuya Kawajiri, Shigeru Iwata, Katsunori Tanaka, Takeru Sonoda, Mizuki Nishikawa, Ryuta Iwamoto, Yuichi Takahashi, Fumiyoshi Kojima, Takao Fujii

{"title":"Granulomatosis with polyangiitis with lacrimal gland enlargement and pancreatic swelling: A case report and a literature review.","authors":"Tetsuya Kawajiri, Shigeru Iwata, Katsunori Tanaka, Takeru Sonoda, Mizuki Nishikawa, Ryuta Iwamoto, Yuichi Takahashi, Fumiyoshi Kojima, Takao Fujii","doi":"10.1093/mrcr/rxae066","DOIUrl":"10.1093/mrcr/rxae066","url":null,"abstract":"A 62-year-old man had bilateral eyelid swelling for 4 months. Two months before admission, he developed fatigue and lost 5 kg of body weight. Further examination revealed elevated serum C-reactive protein, normal angiotensin-converting enzyme, elevated proteinase-3 antineutrophil cytoplasmic antibody (PR3-ANCA), and normal immunoglobulin (Ig)G4 concentration. Chest X-ray and computed tomography showed no enlarged hilar lymph nodes, but positron emission tomography-computed tomography showed fluorodeoxyglucose accumulation in both lacrimal glands, in lung nodules, and in the pancreas. Tissue biopsies of the lacrimal glands and pulmonary nodules showed granuloma with giant cells, but no IgG4-positive cells or fibrosis. Pancreatic tissue showed no findings of autoimmune pancreatitis. In the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria for granulomatosis with polyangiitis, the total score was 10 points. Final comprehensive diagnosis was granulomatosis with polyangiitis, based on the negative results of differential diseases, such as IgG4-related diseases and sarcoidosis. Prednisolone 60 mg/day was started on Day 8, and rituximab 500 mg/body/week on Day 12. After beginning treatment, general malaise and lacrimal gland enlargement were resolved, PR3-ANCA and C-reactive protein became negative, and the nodular shadow in the lungs disappeared. This is the first report of granulomatosis with polyangiitis presenting both lacrimal gland and pancreatic lesions.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"155-162"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0