Modern rheumatology case reports最新文献_第2页

Parallel improvement of chorea and antiphospholipid autoimmunity during combination therapy with hydroxychloroquine, belimumab, and glucocorticoids in systemic lupus erythematosus. 羟氯喹、贝利单抗和糖皮质激素联合治疗系统性红斑狼疮时舞蹈病和抗磷脂自身免疫的平行改善。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag011

Ryoko Asano, Hiroki Maesaka, Satoshi Yamaguchi, Ikuma Okada, Miho Yamazaki, Naonori Sugishita, Masatoshi Kawataka, Toshiki Kido, Hiroyuki Hounoki, Masaru Kato

{"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":"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.","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}

引用次数: 0

Large-vessel vasculitis in Behçet's disease carrying MEFV exon 10 variants: A case suggesting a pyrin-associated autoinflammatory background. 携带MEFV外显子10变异的behaperet病的大血管炎：一个提示pyrin相关自身炎症背景的病例

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag018

Nozomi Nishimura, Keisuke Nishimura, Shinsuke Ninomiya, Hiroyuki Murabe, Jun Saegusa

{"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":"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.","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}

引用次数: 0

A case of antineutrophil cytoplasmic antibody-associated vasculitis and sclerosing mediastinitis. anca相关性血管炎及硬化性纵隔炎1例。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxaf085

Bliss Colao, Annika Liu, Azin Azarfar, Xu Zeng, Brian Stewart, Wai Lang Lau, Michael R Bubb, Ann Chauffe

{"title":"A case of antineutrophil cytoplasmic antibody-associated vasculitis and sclerosing mediastinitis.","authors":"Bliss Colao, Annika Liu, Azin Azarfar, Xu Zeng, Brian Stewart, Wai Lang Lau, Michael R Bubb, Ann Chauffe","doi":"10.1093/mrcr/rxaf085","DOIUrl":"10.1093/mrcr/rxaf085","url":null,"abstract":"Sclerosing mediastinitis (SM) is a rare condition characterised by extensive fibrous proliferation within the mediastinum. While some patients remain asymptomatic, others may present with chest pain, dyspnoea, haemoptysis, or complications such as superior vena cava syndrome or pulmonary hypertension. The aetiology of SM may be caused by infections, malignancies, autoimmune diseases, radiation therapy, or have idiopathic origins. We present a case of a 55-year-old man diagnosed with SM and granulomatosis with polyangiitis. The patient initially presented from an outside hospital with a large periaortic soft tissue mass, accompanied by symptoms of cough, shortness of breath, haemoptysis, and joint pain. Laboratory findings revealed elevated inflammatory markers and positive antineutrophil cytoplasmic antibody targeting proteinase-3. Imaging studies demonstrated abnormal mediastinal soft tissue encasing the thoracic aorta with subcarinal lymphadenopathy. Biopsy of the mass confirmed fibrotic tissue consistent with SM, and kidney biopsy revealed crescentic glomerulonephritis indicative of granulomatosis with polyangiitis. Treatment involved high-dose corticosteroids and rituximab, leading to significant improvement in overall patient status. The patient's follow-up revealed sustained remission, with resolution of lung infiltrates and decreased mediastinal mass size. Although the association between SM and antineutrophil cytoplasmic antibody-associated vasculitis remains unclear, our case highlights the importance of considering both diagnoses in a presentation of mediastinal fibrosis. Further research is warranted to clarify optimal management strategies for these rare conditions.","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":"145822647","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

Tocilizumab-induced bullous rheumatoid neutrophilic dermatitis: a rare steroid-resistant adverse effect managed with etanercept. 托珠单抗诱导的大疱性类风湿中性粒细胞皮炎：用依那西普治疗罕见的类固醇耐药不良反应。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxaf073

Thabuna Sivaprakasam, Molly Lien, Amna Gill, Kayla Riswold, Joseph Fanciullo

{"title":"Tocilizumab-induced bullous rheumatoid neutrophilic dermatitis: a rare steroid-resistant adverse effect managed with etanercept.","authors":"Thabuna Sivaprakasam, Molly Lien, Amna Gill, Kayla Riswold, Joseph Fanciullo","doi":"10.1093/mrcr/rxaf073","DOIUrl":"10.1093/mrcr/rxaf073","url":null,"abstract":"Neutrophilic dermatoses (NDs) are a heterogeneous group of inflammatory skin disorders marked by dense, sterile neutrophilic infiltrates. Rheumatoid neutrophilic dermatitis (RND), a rare subtype, is uniquely associated with rheumatoid arthritis (RA) and typically presents in patients with severe seropositive disease. Here, we report a rare case of bullous RND in a 67-year-old male with chronic seropositive nodular RA, temporally triggered by the interleukin-6 inhibitor tocilizumab. The patient developed a recurrent bullous eruption following successive tocilizumab infusions, confirmed by histopathology as RND. Despite corticosteroid therapy and colchicine, his symptoms persisted. Discontinuation of tocilizumab and initiation of etanercept resulted in rapid and sustained resolution of both cutaneous and articular symptoms. This case represents only the second reported incidence of tocilizumab-induced RND and one of very few cases demonstrating a steroid-refractory bullous phenotype that responded exclusively to TNF-α inhibition. It underscores the complex and sometimes paradoxical effects of biologics, which may both treat and trigger neutrophilic dermatoses. Our findings support the importance of recognising biologic-induced cutaneous adverse effects and tailoring management strategies accordingly. Early identification through skin biopsy, prompt discontinuation of the offending agent, and consideration of targeted immunomodulators such as tumour necrosis factor-alpha inhibitors are critical in managing drug-induced RND. Continued documentation of such cases will enhance understanding of paradoxical inflammatory responses to biologic agents and inform future therapeutic approaches in patients with autoimmune diseases.","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":"145672964","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

Reversal of chronic arterial stenosis with biologic therapy including tocilizumab in Takayasu arteritis. 用包括托珠单抗在内的生物治疗逆转高松动脉炎的慢性动脉狭窄。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag002

Chisako Kitayama, Tsuyoshi Shirai, Tokio Katakura, Yusho Ishii, Hiroko Sato, Hiroshi Fujii

{"title":"Reversal of chronic arterial stenosis with biologic therapy including tocilizumab in Takayasu arteritis.","authors":"Chisako Kitayama, Tsuyoshi Shirai, Tokio Katakura, Yusho Ishii, Hiroko Sato, Hiroshi Fujii","doi":"10.1093/mrcr/rxag002","DOIUrl":"10.1093/mrcr/rxag002","url":null,"abstract":"Biologic agents have demonstrated efficacy in the treatment of refractory Takayasu arteritis (TAK). Although vascular stenosis is a common manifestation of the chronic phase of TAK, evidence on the effects of biologic therapy on established vascular lesions remains limited. Here, we report a case series of TAK in which chronic arterial stenosis showed marked improvement following treatment with biologic agents. The first case was a 27-year-old woman with stenosis of the left common carotid artery. Initial treatment with prednisolone (PSL) led to clinical improvement; however, the vascular lesion progressed during tapering, despite the normalisation of inflammatory markers. Reinduction with a methylprednisolone pulse and methotrexate led to slight improvement. Subsequent therapy with tocilizumab, followed by golimumab, resulted in significant and sustained improvement in the stenosis. The second case was a 20-year-old woman with wall thickening of the right brachiocephalic artery. Although PSL and methotrexate were initially administered, the progression of left subclavian artery stenosis was detected on ultrasonography before symptom onset, despite normalised inflammatory markers. The introduction of tocilizumab, with increased PSL, led to a notable improvement in the vascular lesions. These cases and a literature review suggest that biologic agents may reverse vascular remodelling in chronic TAK, even in the absence of systemic inflammatory activity. Comprehensive disease assessment using imaging modalities, alongside serum biomarkers, is essential to guide therapeutic decisions and monitor vascular changes. These findings highlight the importance of imaging-based disease monitoring and raise the potential for targeted treatment strategies aimed at both inflammation control and vascular lesion modification.","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":"146109309","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

Metronidazole-induced encephalopathy in a patient with primary Sjögren disease. 甲硝唑致原发性Sjögren疾病患者的脑病。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag019

So Yamamoto, Shuhei Yoshida, Ayumi Hashimoto, Aren Fueki, Hiroaki Otaka, Kenji Saito, Nozomu Matsuda, Tomoyuki Asano, Shuzo Sato, Kazuaki Kanai, Yasuhiro Shimojima

{"title":"Metronidazole-induced encephalopathy in a patient with primary Sjögren disease.","authors":"So Yamamoto, Shuhei Yoshida, Ayumi Hashimoto, Aren Fueki, Hiroaki Otaka, Kenji Saito, Nozomu Matsuda, Tomoyuki Asano, Shuzo Sato, Kazuaki Kanai, Yasuhiro Shimojima","doi":"10.1093/mrcr/rxag019","DOIUrl":"10.1093/mrcr/rxag019","url":null,"abstract":"Primary Sjögren disease is a chronic autoimmune disorder that impairs the peripheral and central nervous systems. No cases of metronidazole (MNZ)-induced encephalopathy (MIE) in patients with primary Sjögren disease have been reported. Herein, we present the case of a patient with primary Sjögren disease who developed MIE. A 74-year-old woman with a history of primary Sjögren disease and interstitial lung disease presented with progressive gait disturbance and dysarthria after prolonged MNZ administration. In addition, the patient had right facial palsy and ataxia of the trunk and extremities. Diffusion-weighted brain magnetic resonance imaging revealed symmetric hyperintense signals in the splenium of the corpus callosum and bilateral dentate nuclei, which were suggestive of MIE. MNZ was immediately discontinued, leading to rapid improvement in neurological impairments. Additionally, improvement in intracranial lesions was observed on brain magnetic resonance imaging. To our knowledge, this is the first reported case of MIE in a patient with primary Sjögren disease. Our case suggests the importance of a comprehensive investigation of the causes of neurological manifestations in patients with primary Sjögren disease, while considering other autoimmune diseases and drug induction.","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":"147367829","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

Distally fixed stem reconstruction for extensive femoral osteonecrosis involving the greater trochanter. 远端固定柄重建术治疗累及大转子的广泛股骨骨坏死。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag026

Yoshitomo Oya, Koichi Kinoshita, Kenichiro Doi, Yoshiaki Hideshima, Fumihiro Yoshimura, Yuta Kataoka, Takuaki Yamamoto

引用次数: 0

Neurofascialvascular training in systemic sclerosis: Clinical outcomes, proposed rationale, and home-programme feasibility. 系统性硬化症的神经筋膜血管训练：临床结果，建议的基本原理和家庭计划可行性。一个病例报告。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag030

Paolo Bertacchini

{"title":"Neurofascialvascular training in systemic sclerosis: Clinical outcomes, proposed rationale, and home-programme feasibility.","authors":"Paolo Bertacchini","doi":"10.1093/mrcr/rxag030","DOIUrl":"10.1093/mrcr/rxag030","url":null,"abstract":"Background: Secondary Raynaud's phenomenon in limited cutaneous systemic sclerosis is driven by structural microvascular disease and is frequently accompanied by hand oedema, stiffness, and functional disability. Evidence for pragmatic physiotherapy approaches addressing both vascular symptoms and soft-tissue involvement remains limited.Case: A 66-year-old man with limited cutaneous systemic sclerosis (diagnosed in 2009) and long-standing triphasic Raynaud's symptoms reported cold-induced digital pain, recurrent fissures with prior ulceration, puffy hands, reduced finger range of motion, and impaired fine motor function despite stable therapy, including intravenous prostacyclin every 2 weeks. Outcomes at baseline (November 2024), post-intervention (April 2025), and follow-up (December 2025) included the Raynaud's Condition Score, QuickDASH, ScleroID, COMPASS-31, and HAMIS.Intervention: The patient completed a structured neurofascialvascular training programme comprising 24 supervised 30-minute sessions (November 2024 to April 2025) with home practice on non-clinic days, followed by a home-only programme (30 minutes/day) through follow-up; adherence was monitored with an exercise log.Outcomes: Symptom burden and hand function improved from baseline to post-intervention and were largely maintained at follow-up, with shorter typical Raynaud's episodes and better hand mobility and disability scores. About 5% of prescribed home sessions were missed. Infrared thermography and clinical photographs were used descriptively to show acute pre-post session thermal changes and longitudinal reductions in puffiness and colour changes; follow-up images were obtained in December (cold season).Conclusion: This case suggests that a neurofascialvascular training programme was feasible and was associated with sustained improvement in Raynaud-related burden and hand function, warranting prospective controlled evaluation.","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":"147505849","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

Polyarteritis nodosa presenting with TAFRO signs following COVID-19 infection: case report. COVID-19感染后出现TAFRO体征的结节性多动脉炎1例报告。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxaf075

Rina Ishigame, Shigeru Iwata, Kayoko Tabata, Hiromitsu Kita, Yuri Nakashima, Mizuki Nakatsuka, Shotaro Tabata, Ryuta Iwamoto, Masatoshi Jinnin, Shin-Ichi Araki, Takao Fujii

{"title":"Polyarteritis nodosa presenting with TAFRO signs following COVID-19 infection: case report.","authors":"Rina Ishigame, Shigeru Iwata, Kayoko Tabata, Hiromitsu Kita, Yuri Nakashima, Mizuki Nakatsuka, Shotaro Tabata, Ryuta Iwamoto, Masatoshi Jinnin, Shin-Ichi Araki, Takao Fujii","doi":"10.1093/mrcr/rxaf075","DOIUrl":"10.1093/mrcr/rxaf075","url":null,"abstract":"The diagnostic criteria for TAFRO syndrome exclude autoimmune diseases, and they have been considered to be mutually independent. However, several cases of autoimmune diseases with TAFRO signs have been reported in recent years. Also, similarities in cytokine profiles in COVID-19 and TAFRO syndrome have been previously reported. Our patient, a 53-year-old Japanese man, was diagnosed with COVID-19 and had a persistent fever. Two weeks later, pain, numbness, and oedema appeared, mainly in the right lower leg but gradually spreading to the distal extremities. Subsequently, purpura appeared on his forearms and lower legs, and 10 weeks after the COVID-19 diagnosis he presented to our hospital. On admission, in addition to fever, polyangiitis, and purpura of the extremities, he had splenomegaly, lymphadenopathy, and anasarca. Skin and renal histopathology revealed fibrinoid necrotising vasculitis of small and medium-sized arteries. In addition, his platelet count was low, Alkaline phosphatase (ALP) was elevated, and there was anasarca, fever, and renal failure. A diagnosis of polyarteritis nodosa with TAFRO signs was made. On the 20th day of admission, high-dose glucocorticoids and high-dose intravenous cyclophosphamide were started. The platelet count initially improved, with gradual improvement of vasculitis and symptoms of fever, purpura, and neuropathy. However, there was another decrease in platelets, progression of renal dysfunction, and worsening of fluid retention. Tocilizumab was added, but the disease could not be controlled, and on the 51st day, necrotising fasciitis developed and the patient died. This case suggests that COVID-19, TAFRO syndrome, and vasculitis may be interrelated in their pathogeneses.","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":"145566691","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

Erdheim-Chester disease mimicking IgG4-related disease. 模拟igg4相关疾病的厄德海姆-切斯特病。

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Modern rheumatology case reports Pub Date : 2026-01-06 DOI: 10.1093/mrcr/rxag001

Katherine E Moore, Gabriella Venter, John P Slavotinek, Mihir D Wechalekar

{"title":"Erdheim-Chester disease mimicking IgG4-related disease.","authors":"Katherine E Moore, Gabriella Venter, John P Slavotinek, Mihir D Wechalekar","doi":"10.1093/mrcr/rxag001","DOIUrl":"10.1093/mrcr/rxag001","url":null,"abstract":"Aortitis is a rare but critical manifestation of systemic inflammatory disease, most commonly associated with large-vessel vasculitides such as Takayasu arteritis and giant cell arteritis. When accompanied by multiorgan inflammation and fibrosis, it presents a broader diagnostic challenge that includes immune-mediated conditions such as immunoglobulin G4-related disease (IgG4-RD) and rare histiocytic neoplasms. While IgG4-RD is increasingly recognised due to improved diagnostic criteria and access to immunostaining, histiocytic neoplasms such as Erdheim-Chester disease (ECD) remain underdiagnosed. ECD is a clonal histiocytic neoplasm driven by mutations in the mitogen-activated protein kinase pathway, with multisystem tissue infiltration and inflammation. Unlike IgG4-RD, ECD is amenable to targeted therapies. We present a diagnostically challenging case of a middle-aged woman referred with presumed IgG4-RD following five months of progressive retroperitoneal fibrosis, bilateral ureteric obstruction, weight loss, and fatigue. Further investigation revealed aortitis involving major branches, interstitial lung disease, and adrenal and pituitary involvement, but notably without skeletal disease. Omental biopsy confirmed ECD, with a pathogenic MAP2K1 mutation detected. This case highlights the diagnostic complexity of bone-sparing ECD, a phenotype present in fewer than five percent of cases. Its clinical mimicry of vasculitis and other inflammatory disorders can obscure the underlying neoplastic process, delaying diagnosis and access to effective treatment. In patients with systemic inflammation and inconclusive serology, early consideration of ECD is essential to guide appropriate investigations and timely therapy.","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":"146055730","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