Modern rheumatology case reports最新文献_第6页

Lupus myocarditis mimicking peripartum cardiomyopathy: A diagnostic challenge and successful clinical management. 狼疮性心肌炎模拟围产期心肌病：诊断挑战和成功的临床管理。

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Modern rheumatology case reports Pub Date : 2026-06-29 DOI: 10.1093/mrcr/rxag069

Yunus Emre Dalkılıç, Fatih Mehmet Doğan, Berkay Soysal, Emine Büşra Ata, Sedat Yılmaz

引用次数: 0

A case of glucocorticoid-resistant VEXAS syndrome successfully treated with baricitinib. 巴西替尼治疗糖皮质激素抵抗性VEXAS综合征1例。

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Modern rheumatology case reports Pub Date : 2026-06-29 DOI: 10.1093/mrcr/rxag044

Takao Ogawa, Masao Tamura, Ayaka Maeda, Yohei Kirino, Nobuo Kanazawa, Naoto Azuma

{"title":"A case of glucocorticoid-resistant VEXAS syndrome successfully treated with baricitinib.","authors":"Takao Ogawa, Masao Tamura, Ayaka Maeda, Yohei Kirino, Nobuo Kanazawa, Naoto Azuma","doi":"10.1093/mrcr/rxag044","DOIUrl":"10.1093/mrcr/rxag044","url":null,"abstract":"VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, caused by somatic mutations in UBA1, can mimic adult-onset Still's disease (AOSD) and is often refractory to glucocorticoids. We report a case of VEXAS syndrome in a man in his seventies who had initially been treated as AOSD with interstitial lung disease and large-vessel vasculitis and who relapsed with high fever, vesiculopustular eruptions, polyarthritis, auricular chondritis, and macrocytic anaemia during prednisolone (PSL) tapering. Given the lack of response to PSL escalation and the possibility of VEXAS syndrome, baricitinib, a Janus kinase 1/2 inhibitor, was initiated, resulting in rapid clinical and hematologic improvement. Genetic testing identified UBA1 (c.122 T > C, p.Met41Thr; variant allele frequency 76%), confirming VEXAS syndrome. PSL was tapered to 10 mg/day, and complete remission according to the criteria of the French VEXAS Study Group (FRENVEX) was achieved within 3 months after baricitinib initiation, with no recurrence at 6 months. This case underscores the importance of early UBA1 testing in elderly men with AOSD-like presentations and suggests that baricitinib may serve as a glucocorticoid-sparing therapeutic option in selected cases, although its efficacy should be interpreted cautiously in light of genotype-dependent heterogeneity and the combined effects of JAK1/2 inhibition.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304414","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-PM/Scl antibody-positive myositis with muscle pathology resembling anti-synthetase syndrome. 抗pm /Scl抗体阳性肌炎，肌肉病理类似抗合成酶综合征。

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Modern rheumatology case reports Pub Date : 2026-06-29 DOI: 10.1093/mrcr/rxag065

Kosuke Naito, Mayu Yagita-Sakamaki, Atsuko Nishikawa, Toshio Tanaka

{"title":"Anti-PM/Scl antibody-positive myositis with muscle pathology resembling anti-synthetase syndrome.","authors":"Kosuke Naito, Mayu Yagita-Sakamaki, Atsuko Nishikawa, Toshio Tanaka","doi":"10.1093/mrcr/rxag065","DOIUrl":"10.1093/mrcr/rxag065","url":null,"abstract":"Anti-polymyositis/scleroderma (PM/Scl) antibodies were originally thought to be autoantibodies associated with overlap syndromes involving idiopathic inflammatory myopathies and systemic sclerosis, but some patients with these antibodies present with clinical features similar to those of anti-synthetase syndrome (ASyS). Herein, we report the case of a 63-year-old Japanese woman with anti-PM/Scl antibody-positive, but anti-aminoacyl tRNA synthetases antibody-negative myositis with interstitial lung disease and dermatomyositis-like skin manifestations. Her muscle pathological findings resembled those observed in ASyS, including perifascicular fibre necrosis and increased alkaline phosphatase activity in the perimysium. Owing to the potential risk of systemic sclerosis overlap and scleroderma renal crisis, calcineurin inhibitor treatment was avoided, and mycophenolate mofetil was administered in addition to glucocorticoids. This approach enabled rapid tapering of glucocorticoids, resulting in a favourable clinical course. To our knowledge, this report provides novel insights into the muscle pathology of anti-PM/Scl antibody-positive myositis, highlighting pathological similarities with ASyS. Our findings also suggest that mycophenolate mofetil may be a reasonable immunosuppressive therapy, especially when there is a risk of scleroderma renal crisis.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148427883","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

IgG4-related disease overlapping with systemic lupus erythematosus. igg4相关疾病与系统性红斑狼疮重叠。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag033

Teodora Baciu, Diana Mazilu, Andra Balanescu, Guillaume Jeantet, Yves-Marie Pers

引用次数: 0

Osteochondral reconstruction of the first metatarsophalangeal joint in rheumatoid arthritis using autograft harvested during a modified Lapidus procedure: a case report. 改良Lapidus手术中自体骨软骨重建类风湿关节炎第一跖趾关节一例报告。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag034

Dan Moriwaki, Tomoyuki Nakasa, Yasunari Ikuta, Saori Ishibashi, Satoru Sakurai, Taro Chujo, Nobuo Adachi

{"title":"Osteochondral reconstruction of the first metatarsophalangeal joint in rheumatoid arthritis using autograft harvested during a modified Lapidus procedure: a case report.","authors":"Dan Moriwaki, Tomoyuki Nakasa, Yasunari Ikuta, Saori Ishibashi, Satoru Sakurai, Taro Chujo, Nobuo Adachi","doi":"10.1093/mrcr/rxag034","DOIUrl":"10.1093/mrcr/rxag034","url":null,"abstract":"Reconstruction of the severely destroyed first metatarsophalangeal (MTP) joint in patients with rheumatoid arthritis (RA) remains challenging, and arthrodesis is commonly selected as the standard procedure. We describe a novel surgical technique that reconstructs the destroyed first MTP joint by repurposing osteochondral fragments harvested during a modified Lapidus procedure without additional donor-site morbidity. A 57-year-old woman with long-standing RA presented with severe destruction of the first MTP joint associated with a complex forefoot deformity. Following a modified Lapidus procedure and lesser metatarsal shortening, osteochondral grafts harvested from the first tarsometatarsal joint were used to anatomically restore the first MTP joint. The distal medial cuneiform fragment was used to reconstruct the first metatarsal head, and the proximal first metatarsal fragment was used for the proximal phalanx, allowing bilateral joint resurfacing. All grafts were secured with absorbable pins. Postoperative radiographs at 1 year demonstrated maintained alignment, joint congruity, and stable graft incorporation without complications. The patient reported marked pain relief and improved ambulatory function whilst preserving MTP joint motion. This biological recycling technique can provide a viable option for reconstructing destroyed articular surfaces in carefully selected RA cases without donor-site morbidity.","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":"147944419","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 AL amyloidosis-associated arthritis initially misdiagnosed as rheumatoid arthritis. AL淀粉样变性相关关节炎最初误诊为类风湿性关节炎1例。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag020

Yukina Tanimoto, Hirotaka Yamada, Shintaro Yasui, Michio Mugitani, Keiji Kurata, Keisuke Nishimura, Jun Saegusa

{"title":"A case of AL amyloidosis-associated arthritis initially misdiagnosed as rheumatoid arthritis.","authors":"Yukina Tanimoto, Hirotaka Yamada, Shintaro Yasui, Michio Mugitani, Keiji Kurata, Keisuke Nishimura, Jun Saegusa","doi":"10.1093/mrcr/rxag020","DOIUrl":"10.1093/mrcr/rxag020","url":null,"abstract":"Excessive production of immunoglobulin light chains can result in amyloid light-chain (AL) amyloidosis, which manifests as arthritis in ~3.7% of cases. Myeloma-associated amyloid arthropathy, a musculoskeletal manifestation of AL amyloidosis, often mimics rheumatoid arthritis, making an accurate diagnosis challenging. Musculoskeletal ultrasonography has emerged as a valuable tool in the differential diagnosis of arthralgia; however, the specific sonographic features of AL amyloidosis-related arthritis remain poorly characterised. We present a case of AL amyloidosis-associated arthritis initially misdiagnosed and treated as seronegative rheumatoid arthritis. A comprehensive diagnostic workup - including musculoskeletal ultrasonography, magnetic resonance imaging, ultrasound-guided biopsy of the left shoulder joint, and systemic evaluations such as serum and urine protein electrophoresis and bone marrow examination - led to a definitive diagnosis of AL amyloidosis secondary to multiple myeloma. This case highlights the need to consider AL amyloidosis in the differential diagnosis of atypical arthritis, particularly in seronegative patients with a poor response to rheumatoid arthritis therapies, the involvement of nonclassical joints, or systemic manifestations such as proteinuria or peripheral neuropathy. Although not diagnostic on its own, musculoskeletal ultrasonography may reveal atypical synovial changes suggestive of amyloid deposition and assist in guiding targeted biopsies, which remain essential for a definitive diagnosis. Notably, this case demonstrated positive power Doppler signals, in contrast to previous reports, suggesting a broader spectrum of ultrasonographic findings in amyloid arthropathy than previously recognised.","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":"147367780","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

Correction to: Intracranial invasion of granulomatous sinusitis: report of a rare case of granulomatosis with polyangiitis. 纠正：肉芽肿性鼻窦炎颅内侵犯：一例罕见的肉芽肿病合并多血管炎。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag084

引用次数: 0

Parallel course of calcinosis and cancer in a patient with anti-NXP2-positive dermatomyositis: A case report. 抗nxp2阳性皮肌炎患者钙质沉着症和癌症的平行病程：1例报告。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag016

Christopher A Mecoli, Akila N Viswanathan, Antony Rosen, Livia Casciola-Rosen

{"title":"Parallel course of calcinosis and cancer in a patient with anti-NXP2-positive dermatomyositis: A case report.","authors":"Christopher A Mecoli, Akila N Viswanathan, Antony Rosen, Livia Casciola-Rosen","doi":"10.1093/mrcr/rxag016","DOIUrl":"10.1093/mrcr/rxag016","url":null,"abstract":"Background: In patients with dermatomyositis (DM) and anti-nuclear matrix protein 2 autoantibodies, associations with both cancer and calcinosis are well established. However, the relationship between the progression of calcinosis and the development of cancer remains unknown. Herein, we describe a unique case that prompts hypotheses regarding shared immunologic mechanisms underlying these clinical complications.Case presentation: We present the case of a 46-year-old woman diagnosed with biopsy-proven anti-nuclear matrix protein 2-positive DM manifesting as proximal muscle weakness, myalgias, pruritic rash, and elevations in creatine phosphokinase. Five years into her disease course, the patient developed an abrupt, coincident severe calcinosis and stage IIB squamous cell carcinoma of the cervix. She required aggressive immunosuppression, immunomodulation, and cancer therapy, which ultimately resulted in the remission of her cancer and improvement of her DM, with her calcinosis achieving a quiescent state. Her case describes a parallel course of calcinosis and cancer, and it highlights the challenges of managing refractory DM with malignancy.Conclusions: Our case demonstrates that calcinosis and cancer can develop concurrently and follow a parallel course over time, suggesting a possible mechanistic link between the two complications. This report also highlights that communication between rheumatology, medical oncology, and radiation oncology is pivotal for optimally treating these complex patients.","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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13002130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147367803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Critical limb Ischaemia in granulomatosis with polyangiitis: a rare but severe complication. 肉芽肿病伴多血管炎的严重肢体缺血：罕见但严重的并发症。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxaf084

Anushka Aggarwal, Rohini Handa, Rakesh Mahajan, Shradha Engels

{"title":"Critical limb Ischaemia in granulomatosis with polyangiitis: a rare but severe complication.","authors":"Anushka Aggarwal, Rohini Handa, Rakesh Mahajan, Shradha Engels","doi":"10.1093/mrcr/rxaf084","DOIUrl":"10.1093/mrcr/rxaf084","url":null,"abstract":"Granulomatosis with polyangiitis (GPA) is a small-to-medium vessel vasculitis usually presenting with upper airway, pulmonary, and renal involvement. Critical limb ischaemia (CLI) and arterial thrombosis are rare but severe complications of GPA, often resulting in poor prognosis and limb loss. We describe a 34-year-old woman presenting with right upper limb CLI on a background of GPA, manifesting as fever, purpura with upper airway, pulmonary, and renal involvement. Investigations confirmed proteinase-3 anti-neutrophil cytoplasmic antibody positivity, elevated inflammatory markers, proteinuria with active urinary sediment, and imaging revealed pulmonary infiltrates with sinus involvement. She received IV steroids and rituximab but developed acute limb-threatening ischaemia due to brachial artery thrombosis. Immediate thrombectomy with thrombolysis restored blood flow and prevented amputation. Available literature highlights the extreme rarity of CLI in GPA (<1%), with most reported cases resulting in limb loss despite immunosuppression. Prompt diagnosis using Doppler/angiogram and urgent surgical intervention, in conjunction with immunosuppression, is critical for limb salvage. This case underscores the importance of early recognition and combined surgical-medical management in GPA presenting with arterial thrombosis and CLI, which can successfully preserve limb function and improve outcomes.","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":"145795759","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

Therapeutic evolution and outcomes in EGPA complicated by diffuse alveolar haemorrhage: Case-based review. EGPA合并弥漫性肺泡出血的治疗进展和结果：基于病例的回顾。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag028

Yang Liu, Xing Zhao, Jinfang Gao, Ke Xu

{"title":"Therapeutic evolution and outcomes in EGPA complicated by diffuse alveolar haemorrhage: Case-based review.","authors":"Yang Liu, Xing Zhao, Jinfang Gao, Ke Xu","doi":"10.1093/mrcr/rxag028","DOIUrl":"10.1093/mrcr/rxag028","url":null,"abstract":"Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare, systemic vasculitis characterised by asthma, eosinophilia, and multi-organ involvement. Diffuse alveolar haemorrhage (DAH) is an uncommon, but life-threatening pulmonary complication in EGPA. We report on a 49-year-old, previously healthy woman who presented initially with asthma-like symptoms and later developed a fever, haemoptysis, cutaneous purpura, and periorbital oedema. Laboratory evaluation revealed marked eosinophilia, anaemia, elevated inflammatory markers, and a strongly positive MPO-ANCA. Bronchoalveolar lavage fluid was haemorrhagic and contained hemosiderin-laden macrophages, indicating DAH. Broad-spectrum antibiotics were empirically initiated but discontinued after metagenomic next-generation sequencing (mNGS) of the bronchoalveolar lavage fluid excluded infection. A bone marrow biopsy showed eosinophilic hyperplasia without clonal mutations. A diagnosis of MPO-ANCA positive EGPA with DAH was established. The patient received pulse methylprednisolone, prednisone, intravenous immunoglobulin, mepolizumab, and rituximab. Clinical symptoms improved rapidly, and radiological signs of alveolar haemorrhage had nearly resolved within days. Our case illustrates that the integration of rituximab and mepolizumab with corticosteroids can achieve rapid remission and steroid sparing in EGPA-DAH. While evidence remains limited to case reports and small series, targeted biologics may fundamentally improve outcomes in this high-risk subset. Prospective studies are warranted to define optimal treatment strategies.","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":"147517929","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