Modern rheumatology case reports最新文献

{"title":"Small vessel vasculitis diagnosed with conchotome muscle biopsy: A case series.","authors":"Natsuka Umezawa, Hirokazu Sasaki, Shimpei Oka, Tomoko Niwano, Shinsuke Yasuda","doi":"10.1093/mrcr/rxag029","DOIUrl":"10.1093/mrcr/rxag029","url":null,"abstract":"<p><p>A percutaneous conchotome muscle biopsy, which is a semi-open technique, provides significant diagnostic yield, especially for inflammatory myopathies. In patients with small vessel vasculitis, muscle involvement could sometimes be the sole or most prominent organ involvement. While open muscle biopsy has been reported to be useful for the diagnosis of vasculitis, the diagnostic utility with conchotome muscle biopsy for vasculitis remains unclear. Here, we report four cases in which a conchotome muscle biopsy made a significant contribution to their diagnosis of small vessel vasculitis. All cases presented with myalgia and weakness at the onset of their diseases, and with an elevation of myeloperoxidase antineutrophil cytoplasmic antibodies. Pathological examination of muscle tissues revealed significant inflammatory infiltration with fibrinoid necrosis in perimysial arterioles, measuring 50-100 mm in diameter, in all of four cases. Disruption of the elastic plates of the arterioles was found with Elastica van Gieson staining in three cases. Low levels of patients' pain, evaluated with a visual analogue scale (0-100), ranging from 0 to 30, and no occurrence of adverse events in our cases indicated the safety of this technique. All patients were treated successfully with glucocorticoids, with or without immunosuppressants. The conchotome muscle biopsy could yield the pathological features of small vessel vasculitis with minimal invasiveness.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147517922","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}

{"title":"Bilateral orbital masses caused by IgG4-expressing MALT lymphoma in the right side and IgG4-related ophthalmic disease in the left side: A case report.","authors":"Yasuto Araki, Yuko Mishima, Taketo Yamada, Yuji Akiyama, Toshihide Mimura","doi":"10.1093/mrcr/rxag006","DOIUrl":"10.1093/mrcr/rxag006","url":null,"abstract":"<p><p>A 60-year-old Japanese man developed a protruding right eye. He underwent a magnetic resonance imaging scan, which revealed a right orbital mass. The serum immunoglobulin G4 (IgG4) level was elevated, and IgG4+ plasma cells were observed in biopsy specimens of the mass. The result of biopsy and Southern blot analysis revealed that the mass was caused by IgG4+ extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue. He received a total of 36 Gy of radiation therapy, and the mass disappeared. Five years later, he developed a protruding left eye. The magnetic resonance imaging scan at that time revealed a left orbital mass. Biopsy revealed findings of IgG4-related disease in the left orbital mass, but no findings of mucosa-associated lymphoid tissue lymphoma. He has been followed up without glucocorticoid treatment. Here, we report a patient who developed IgG4+ MALT lymphoma in the right orbital mass and IgG4-related ophthalmic disease in the left orbital mass. Because the treatment strategy for IgG4-related ophthalmic disease and malignant lymphoma is completely different, we emphasise the need for biopsy.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146088691","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}

{"title":"Anti-SRP antibody-positive polymyositis complicated by neuromyelitis optica spectrum disorder: a case report and literature review.","authors":"Eisuke Tanaka, Mai Kawazoe, Shotaro Masuoka, Yudai Aikawa, Takashi Tanaka, Keiko Koshiba, Zento Yamada, Risa Wakiya, Eri Watanabe, Sei Muraoka, Takahiko Sugihara, Toshihiro Nanki","doi":"10.1093/mrcr/rxaf082","DOIUrl":"10.1093/mrcr/rxaf082","url":null,"abstract":"<p><p>Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory demyelinating disease primarily affecting the optic nerves and spinal cord. Polymyositis (PM) is an idiopathic inflammatory myopathy characterized by proximal muscle weakness. The anti-signal recognition particle (SRP) antibody is a myositis-specific autoantibody. We herein present a case of anti-SRP antibody-positive PM that developed 6 years after the onset of NMOSD. A 52-year-old woman was diagnosed with NMOSD 6 years previously based on left visual disturbance, a high signal intensity and contrast enhancement of the optic nerve on short τ inversion recovery (STIR)-magnetic resonance imaging (MRI), and anti-aquaporin 4 antibody positivity. She received methylprednisolone pulse therapy followed by oral prednisolone (PSL) at a starting dose of 40 mg daily. Three years later, due to recurrent numbness in the left lower limb and difficulty in reducing the PSL dose to ≤10 mg/day, satralizumab was initiated. At 52 years old, she developed myalgia and muscle weakness in both thighs. PM was diagnosed based on an elevated serum creatine kinase level, anti-SRP antibody positivity, high signal intensities in the right triceps and bilateral adductor muscles on STIR-MRI, and muscle biopsy findings. Treatment with high-dose PSL and tacrolimus markedly attenuated her symptoms. Satralizumab was continued for NMOSD stabilisation. Previous studies reported the coexistence of NMOSD and autoimmune diseases; however, NMOSD with PM/DM is rare. We described a case of NMOSD with anti-SRP antibody-positive PM and provided a literature review.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145758944","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}

{"title":"Iatrogenic immunodeficiency-associated polymorphic lymphoproliferative disorder resulting in complete remission after tacrolimus withdrawal in systemic lupus erythematosus: a case report.","authors":"Misaki Yoshida, Ichiro Mizushima, Hiroko Ikeda, Akihiko Koshino, Keisuke Sako, Takahiro Yuasa, Shunsuke Tsuge, Taichiro Minami, Yuta Yamamura, Ryo Nishioka, Megumi Oshima, Satoshi Hara, Kiyoaki Ito, Norihiko Sakai, Miho Shimizu, Yasunori Iwata","doi":"10.1093/mrcr/rxag038","DOIUrl":"10.1093/mrcr/rxag038","url":null,"abstract":"<p><p>A 27-year-old woman was diagnosed with systemic lupus erythematosus and successfully achieved remission. She remained in long-term remission without relapse whilst receiving prednisolone, tacrolimus, and hydroxychloroquine. At the age of 42, after receiving an influenza vaccination, she developed multiple, progressively enlarging, painless cervical lymph nodes and was referred to our hospital. She presented with fever and cervical lymphadenopathy. Laboratory examination revealed an elevated sIL-2 receptor of 3300 U/mL. Computed tomography demonstrated lymphadenopathy in the left posterior cervical and left submandibular regions, as well as paraaortic lymphadenopathy. 18F-fluorodeoxyglucose positron emission tomography showed abnormal uptake with a maximum standardised uptake value of 14.5. A biopsy of the left posterior cervical lymph node was performed. Histopathological examination showed findings compatible with malignant lymphoma; however, definitive classification was difficult because immunohistochemistry showed loss of CD20 expression in the atypical cells and plasmacytic differentiation. In situ hybridization for Epstein-Barr virus-encoded RNA was negative. Based on the biopsy findings, we diagnosed the patient with Epstein-Barr virus-negative polymorphic lymphoproliferative disorder. We discontinued tacrolimus at the initial visit, after which the lymphadenopathy gradually regressed with almost complete resolution six months later. Iatrogenic immunodeficiency-associated polymorphic lymphoproliferative disorder resulting in complete remission after tacrolimus withdrawal in a patient with systemic lupus erythematosus has not been previously reported. Clinicians should be aware that iatrogenic immunodeficiency-associated polymorphic lymphoproliferative disorder may occur during tacrolimus use and that discontinuation of the drug may lead to improvement of lymphadenopathy.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147950445","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}

{"title":"Anti-signal recognition particle antibody-positive immune-mediated necrotising myopathy with inclusion body myositis-like features in a patient with human immunodeficiency virus and syphilis infection.","authors":"Natsumi Nagao, Yu Funakubo Asanuma, Fumito Inayoshi, Keita Okamoto, Nobuhito Okumura, Yukiko Iwasaki, Toshihide Mimura, Ichizo Nishino, Yuji Akiyama","doi":"10.1093/mrcr/rxag025","DOIUrl":"10.1093/mrcr/rxag025","url":null,"abstract":"<p><p>Inclusion body myositis (IBM) and immune-mediated necrotising myopathy (IMNM) are inflammatory myopathies characterized by specific clinical and pathological features. IBM is associated with human immunodeficiency virus (HIV) infection, whereas IMNM is extremely rare in individuals positive for HIV. To date, no reports have described the coexistence of IMNM and IBM-like pathological features in patients positive for HIV. Herein, we report a rare case of a 40-year-old man with HIV-associated subacute progressive myopathy presenting with simultaneous proximal and distal muscle weakness, dysphagia, and markedly elevated creatine kinase levels. Serological testing revealed strong positivity for anti-signal recognition particle antibodies. Muscle biopsy revealed coexisting pathological features suggesting both IMNM and IBM. The patient showed insufficient response to antiretroviral therapy and glucocorticoids; however, intravenous immunoglobulin therapy resulted in a marked clinical response. This case highlights the possible coexistence of IMNM and IBM-like pathology in the context of HIV infection and provides insights into the pathophysiology of HIV-associated myopathy. Furthermore, this report suggests the potential effectiveness of intravenous immunoglobulin treatment in such cases.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505777","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}

{"title":"Expanding the role of avacopan beyond renal involvement: Clinical insights from two cases.","authors":"Andreia Rita Henriques, Nuno Oliveira, Pedro Castro, Helena Pinto, Emanuel Ferreira, Helena Sá","doi":"10.1093/mrcr/rxag022","DOIUrl":"10.1093/mrcr/rxag022","url":null,"abstract":"<p><p>Granulomatosis with polyangiitis is a necrotising small vessel vasculitis characterised by granulomatous inflammation that can involve the eyes, ear-nose-throat region, and lungs, often refractory to standard immunosuppressive therapies such as glucocorticoids, rituximab, and cyclophosphamide. The complex immunopathogenesis of granulomatous lesions, involving neutrophil swarming, macrophage activation, T-cell responses, and complement activation through the C5a receptor, contributes to treatment challenges. Avacopan, an oral C5a receptor antagonist, has demonstrated efficacy in antineutrophil cytoplasmic antibody-associated vasculitis, particularly in kidney involvement, with evidence of glucocorticoid-sparing benefits from the ADVOCATE trial. However, data on its role in granulomatous manifestations remain limited. We report two cases of severe, refractory granulomatosis with polyangiitis with ocular, ear-nose-throat, and pulmonary granulomatous disease unresponsive to standard therapies but achieving complete clinical and immunological remission with avacopan. Both patients successfully discontinued glucocorticoids and showed marked clinical improvement and radiological resolution of lesions. These cases, supported by recent trial sub-analyses, suggest that avacopan may be an effective therapeutic option for granulomatous granulomatosis with polyangiitis manifestations, enabling glucocorticoid reduction and improved disease control.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147380253","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}

{"title":"Possible involvement of eosinophil Etosis in hepatic injury associated with hypereosinophilic syndrome.","authors":"Yuka Yoshiki, Haruka Miki, Keinosuke Hizuka, Toshiki Sugita, Mizuki Yagishita, Taihei Nishiyama, Masaru Shimizu, Ayako Ohyama, Saori Abe, Ayako Kitada, Hiromitsu Asashima, Yuya Kondo, Hiroto Tsuboi, Shigeharu Ueki, Isao Matsumoto","doi":"10.1093/mrcr/rxag015","DOIUrl":"10.1093/mrcr/rxag015","url":null,"abstract":"<p><p>Hypereosinophilic syndrome (HES) is a rare disorder characterised by persistent eosinophilia and multi-organ damage. While hepatic involvement is an uncommon complication, the underlying pathological mechanism driving tissue injury remains poorly understood, as conventional evidence of eosinophil degranulation is often difficult to ascertain in collagen-rich organs like the liver. We report a case of HES-associated liver injury that implicates eosinophil ETosis (EETosis)-an active cytolytic cell death-in the pathogenic process. A patient presented with marked eosinophilia and elevated liver enzymes. Liver biopsy revealed dense eosinophilic infiltration. Critically, double immunostaining for galectin-10 and major basic protein yielded the direct pathological evidence of EETosis within the liver tissue of an HES patient. Furthermore, the patient's peripheral blood eosinophils exhibited significant spontaneous ETosis in vitro, suggesting an inherent predisposition to tissue damage. This case demonstrates that eosinophil ETosis is a key pathogenic mechanism in HES-related hepatic injury. Our findings underscore the utility of combined galectin-10 and major basic protein staining for the pathological diagnosis of eosinophil-mediated damage and suggest that spontaneous ETosis may serve as a novel biomarker for identifying HES patients at high risk of organ involvement, providing a rationale for targeting eosinophil ETosis in therapeutic strategies.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147483068","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}

{"title":"Rheumatoid arthritis flare mimicry by parvovirus B19.","authors":"Pradnya Patil, Gwenette Andrea War, Debashis Priyadarshan Sahoo, Eshwar Raipalle, Bhupen Barman","doi":"10.1093/mrcr/rxag031","DOIUrl":"10.1093/mrcr/rxag031","url":null,"abstract":"<p><p>Parvovirus B19 infection can closely mimic flares of autoimmune diseases such as rheumatoid arthritis, posing diagnostic challenges. We report a case of a 50-year-old man with seropositive rheumatoid arthritis who presented with acute symmetrical polyarthropathy, a transient rash, and profound anaemia. Initially managed as a rheumatoid flare, further evaluation revealed severe normocytic anaemia with reticulocytopenia. Bone marrow aspiration demonstrated pure red cell aplasia with characteristic giant proerythroblasts containing intranuclear inclusions. Parvovirus B19 DNA was detected by polymerase chain reaction. The patient was treated with intravenous immunoglobulin, resulting in rapid hematologic recovery and resolution of symptoms. This case underscores the importance of considering parvovirus B19 as a differential diagnosis in immunocompromised or chronically ill patients presenting with atypical rheumatologic or hematologic features. Early recognition and appropriate therapy are essential to avoid misdiagnosis and ensure optimal patient outcomes.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147877070","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}

{"title":"Parallel improvement of chorea and antiphospholipid autoimmunity during combination therapy with hydroxychloroquine, belimumab, and glucocorticoids in systemic lupus erythematosus.","authors":"Ryoko Asano, Hiroki Maesaka, Satoshi Yamaguchi, Ikuma Okada, Miho Yamazaki, Naonori Sugishita, Masatoshi Kawataka, Toshiki Kido, Hiroyuki Hounoki, Masaru Kato","doi":"10.1093/mrcr/rxag011","DOIUrl":"10.1093/mrcr/rxag011","url":null,"abstract":"<p><p>Chorea is a movement disorder observed in 1-2% of systemic lupus erythematosus (SLE) cases. Treatment options include anticonvulsants, dopamine antagonists, antiplatelets, anticoagulants, and immunosuppressants such as cyclophosphamide; however, no specific treatment has been established. Here, we report the case of a 76-year-old woman with chorea associated with antiphospholipid antibodies as well as SLE, who exhibited marked improvement both clinically and serologically following initial treatment with glucocorticoids and subsequent combination therapy with hydroxychloroquine and belimumab. In parallel with the decline in the chorea severity score, all tested antiphospholipid antibodies decreased after treatment, with the normalisation of activated partial thromboplastin time (from 70 to 25 s), anti-β2-glycoprotein I IgM (from 22 to 12 U/ml), and phosphatidylserine-dependent antiprothrombin IgG (from 58 to 15 U/ml). A systematic literature review revealed no previously reported cases of chorea associated with SLE treated with a combination of hydroxychloroquine and belimumab. Our case suggests that this combination therapy may have a role in maintaining remission and modulating the antiphospholipid autoimmunity of SLE-associated chorea.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127952","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}

{"title":"Large-vessel vasculitis in Behçet's disease carrying MEFV exon 10 variants: A case suggesting a pyrin-associated autoinflammatory background.","authors":"Nozomi Nishimura, Keisuke Nishimura, Shinsuke Ninomiya, Hiroyuki Murabe, Jun Saegusa","doi":"10.1093/mrcr/rxag018","DOIUrl":"10.1093/mrcr/rxag018","url":null,"abstract":"<p><p>Behçet's disease (BD) is a multisystem inflammatory disorder in which innate immune dysregulation has been increasingly recognised as a key pathogenic feature, and MEFV variants have also been implicated in its pathogenesis. We describe the case of a 51-year-old Japanese woman with incomplete BD who developed large-vessel vasculitis during treatment with low-dose glucocorticoids and colchicine. She had a history of recurrent abdominal pain associated with menstruation and two episodes of aseptic meningitis since childhood, but she had never experienced periodic fever. Genetic analysis revealed compound heterozygous MEFV variants (E148Q in exon 2 and M694I in exon 10). An 18F-fluorodeoxyglucose positron emission tomography/computed tomography demonstrated aneurysms of the brachiocephalic and bilateral subclavian arteries with patchy fluorodeoxyglucose uptake, indicating active vasculitis consistent with BD rather than familial Mediterranean fever. Infliximab therapy was initiated for BD-associated vasculitis, resulting in the rapid normalisation of C-reactive protein and successful tapering of prednisolone. This case suggests that MEFV variants may contribute to an autoinflammatory background that predisposing to vascular involvement in BD, even in the absence of clinical familial Mediterranean fever. The association between MEFV variants and vascular involvement in BD remains controversial, and it has not been consistently demonstrated in Japanese populations, where both the clinical features and genetic background of familial Mediterranean fever differ from those of Eastern Mediterranean patients. This case may, therefore, provide further insight into the role of MEFV variants in the pathogenesis of vascular involvement in BD, particularly in Japanese patients.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147367843","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}