{"title":"Successful treatment of aggressive AA amyloidosis with tocilizumab in a patient with polymyalgia rheumatica.","authors":"Nuh Atas, Ali Rıza Çalışkan, Ayşenur Akatlı","doi":"10.1093/mrcr/rxae050","DOIUrl":"https://doi.org/10.1093/mrcr/rxae050","url":null,"abstract":"<p><p>Polymyalgia rheumatica associated amyloidosis is an extremely rare condition that can be rapidly progressive with high morbidity and mortality and management is challenging. Tocilizumab is a monoclonal anti IL-6 receptor antibody which is in the therapeutic arsenal of polymyalgia rheumatica. The efficiency of tocilizumab in improvement of polymyalgia rheumatica activity score and decreasing steroid dose is well established, while efficiency in polymyalgia rheumatica associated amyloidosis has not been published. Herein, we reported a polymyalgia rheumatica patient with AA amyloidosis who was treated effectively with tocilizumab.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057644","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":"Idiopathic multicentric Castleman disease-TAFRO after COVID-19: A case report.","authors":"Tatsuro Shiina, Eriko Kashihara Yamamoto, Hirotaka Yamada, Sho Sendo, Maki Kanzawa, Jun Saegusa","doi":"10.1093/mrcr/rxae045","DOIUrl":"https://doi.org/10.1093/mrcr/rxae045","url":null,"abstract":"<p><p>TAFRO syndrome, a rare disease characterised by thrombocytopaenia, anasarca, fever, reticulin fibrosis, and organomegaly, is thought to be caused by hypercytokinaemia. It is a heterogeneous clinical entity, and a recent comprehensive international definition defined TAFRO syndrome with lymph node histopathology consistent with idiopathic multicentric Castleman disease (iMCD) as iMCD-TAFRO. Herein, we present a rare case of iMCD-TAFRO following coronavirus disease 2019 (COVID-19) infection. A 62-year-old Japanese woman, initially diagnosed with COVID-19, developed a persistent fever and fluid retention, prompting the diagnosis of iMCD-TAFRO. Following the initiation of prednisolone and cyclosporine, her symptoms gradually resolved. Therefore, we discuss the potential pathophysiological link between COVID-19 and iMCD-TAFRO, emphasising the role of cytokine storms. This case report highlights the importance of recognising the spectrum of inflammatory states after COVID-19 and differentiating iMCD-TAFRO after COVID-19 from the COVID-19 cytokine storm syndrome.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142038132","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}
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":"https://doi.org/10.1093/mrcr/rxae047","url":null,"abstract":"<p><p>Immunoglobulin G4-related disease 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 immunoglobulin G4-related disease 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 remission of both atopic dermatitis and immunoglobulin G4-related disease without glucocorticoid dose escalation. Peripheral blood flow cytometry analysis showed that the proportions of activated non Th1/Th17 cells 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 immunoglobulin G4-related disease.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-23","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}
{"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":"https://doi.org/10.1093/mrcr/rxae044","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-10","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}
{"title":"Anti-asparaginyl tRNA synthetase (Anti-KS) antibody-positive pneumonitis in a patient with immune checkpoint inhibitor treatment: A case report and literature review.","authors":"Nobuhiro Oda, Okuto Koguchi, Hiroki Kontani, Jun Hayashi, Ryo Hazue, Yu Oyama, Ryo Rokutanda","doi":"10.1093/mrcr/rxae043","DOIUrl":"https://doi.org/10.1093/mrcr/rxae043","url":null,"abstract":"<p><p>In recent years, the use of immune checkpoint inhibitors (ICI) has increased and there have been case reports of anti- aminoacyl tRNA synthetase (ARS) antibody syndrome during ICI treatment. However, these cases are limited, and their clinical characteristics are not fully understood. We report the first case of anti ARS antibody syndrome with KS antibody during ICI therapy. This report presents our case, along with a literature review of other anti ARS antibody syndrome cases that developed after ICI use, discussing their clinical characteristics and possible mechanisms of onset. Considering the widespread use of ICI in cancer therapy, we should aware of anti ARS antibody syndrome that develops during use of ICI .</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891402","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}
Jenny A Patel, Kristen B Thomas, Elizabeth H Ristagno, Matthew L Basiaga
{"title":"Simultaneous onset of chronic nonbacterial osteomyelitis in siblings.","authors":"Jenny A Patel, Kristen B Thomas, Elizabeth H Ristagno, Matthew L Basiaga","doi":"10.1093/mrcr/rxae035","DOIUrl":"https://doi.org/10.1093/mrcr/rxae035","url":null,"abstract":"<p><p>Chronic nonbacterial osteomyelitis (CNO) is an uncommon autoinflammatory disorder. Significant effort has recently been spent to better define and treat this disorder including development of consensus treatment protocols, validate disease activity tools, and refining classification criteria. However, the underlying immunopathogenesis of the disease remains elusive. In this report, we describe the simultaneous onset of CNO in siblings. A pathogenic gene mutation was not identified, and these sisters lacked a similar biomarker profile. This report highlights that if a genetic predisposition for CNO exists, it may be related to complex polygenic or multifactorial mechanisms of disease evolution.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891407","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}
Harsh Jain, S Kartik, Abhishek Kumar, Aradhana Dwivedi, J Sankar, V Vasdev, Ashish Chandwani
{"title":"Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case based review.","authors":"Harsh Jain, S Kartik, Abhishek Kumar, Aradhana Dwivedi, J Sankar, V Vasdev, Ashish Chandwani","doi":"10.1093/mrcr/rxae039","DOIUrl":"https://doi.org/10.1093/mrcr/rxae039","url":null,"abstract":"<p><strong>Background: </strong>Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene and compound heterozygous variants in C1QA gene have rarely been reported. Majority of the monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and anti-ribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab and fresh frozen plasma with partial neurological recovery. Thus, we present a unique case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891404","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}
Ilaria Girolami, Reinhard Walter Kluge, Lorenz Gallmetzer, Cecilia Albi, Paola Sorgi, Christian Dejaco, Martina Tauber, Esther Hanspeter, Peter Matzneller
{"title":"Multicentric reticulohistiocytosis with oral and laryngeal involvement in association with autoimmune/inflammatory syndrome induced by adjuvants (ASIA): expanding the spectrum of two uncommon entities.","authors":"Ilaria Girolami, Reinhard Walter Kluge, Lorenz Gallmetzer, Cecilia Albi, Paola Sorgi, Christian Dejaco, Martina Tauber, Esther Hanspeter, Peter Matzneller","doi":"10.1093/mrcr/rxae040","DOIUrl":"https://doi.org/10.1093/mrcr/rxae040","url":null,"abstract":"<p><p>Multicentric reticulohistiocytosis (MRH) is the most frequent entity in the group of reticulohistiocytoses. It is usually accompanied by a symmetrical erosive polyarthritis and is frequently associated with cancer and autoimmune disorders. Autoimmune syndrome induced by adjuvants (ASIA) is an inflammatory syndrome triggered by adjuvants such as those contained in vaccines or by silicone implants. Here we report a 71-years old female with a history of breast cancer treated with surgery and subsequent prosthesis who developed a systemic hyperinflammatory syndrome including seronegative symmetric polyarthritis, multiple skin lesions and two large nodular lesions in the oral cavity and larynx. Clinical picture was consistent with a clinical diagnosis of ASIA, with breast implant rupture and/or vaccination against SARS-CoV-2 as possible triggers. Histopathology of skin, oral and laryngeal nodules revealed cutaneous/mucous and submucosal infiltration of large epithelioid mononuclear or binucleated cells with fine granular ground glass-like cytoplasm and round to kidney-shaped nuclei with prominent nucleoli, without atypical features or relevant pleomorphism, accompanied by sparse giant cells and lymphocytes. These cells stained positive for CD68 and CD45 and negative for S100, CD1a, and markers of epithelial or neural/melanocytic differentiation, altogether consistent with a diagnosis of reticulohistiocytosis. Clinic-pathological correlation allowed the final diagnosis of MRH. To our knowledge, this is the first report of a co-occurrence of MRH with ASIA and this is relevant to broaden the spectrum of those both rare diseases.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891405","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":"Arthroscopic treatment of septic arthritis of the ankle joint caused by streptococcus in patients with chronic inflammatory diseases: two case reports.","authors":"Gensuke Okamura, Makoto Hirao, Takaaki Noguchi, Yuki Etani, Kosuke Ebina, Taihei Miura, Hideki Tsuboi, Atsushi Goshima, Seiji Okada, Jun Hashimoto","doi":"10.1093/mrcr/rxae041","DOIUrl":"https://doi.org/10.1093/mrcr/rxae041","url":null,"abstract":"<p><p>This report describes the arthroscopic treatment of septic arthritis of the ankle joint in two patients with inflammatory diseases, including rheumatoid arthritis (RA) and nail psoriasis. We treated both the ankle joints with antibiotic administration and urgent arthroscopic synovectomy and irrigation, although the procedure was performed several days (4 and 6 days) after the time at which the infection would have occurred. Fortunately, no recurrence has been seen for more than 18 and 20 months, respectively, after surgery, without antibiotic administration. Although septic arthritis of the ankle joint accounts for a small proportion of joint arthritis cases, diagnosis as early as possible is important. Our experience suggests that arthroscopic synovectomy and irrigation are effective for septic ankle arthritis even in chronic inflammatory disease cases.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891403","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":"New-onset of giant cell arteritis with ischemic optic neuropathy following the seventh-dose of COVID-19 mRNA vaccination: A case report and literature review.","authors":"Shin-Ichiro Ohmura, Haruka Yonezawa, Toshitaka Yukishima, Yuko Gohto, Akira Obana","doi":"10.1093/mrcr/rxae042","DOIUrl":"https://doi.org/10.1093/mrcr/rxae042","url":null,"abstract":"<p><p>Coronavirus disease (COVID-19) vaccines have demonstrated excellent efficacy in reducing the morbidity and severity of the disease. However, some patients have been reported to develop systemic rheumatic diseases, such as rheumatoid arthritis, myocarditis, Guillain-Barre syndrome, and giant cell arteritis (GCA) following COVID-19 vaccination. We present a case of GCA with ischemic optic neuropathy following COVID-19 mRNA vaccination. A 73-year-old woman developed headache, myalgia, scalp tenderness, and jaw claudication 4 days after her seventh dose of the vaccination; she also developed severe visual disturbances 1 month after the vaccination. The blood examination tests showed an increased serum C-reactive protein level and erythrocyte sedimentation rate. The echogram for the temporal artery showed a halo sign. Ophthalmic examination revealed ischemic optic neuropathy in both eyes. The patient was treated with a high-dose glucocorticoid and tocilizumab under the diagnosis of GCA with ischemic optic neuropathy, obtaining mild improvement of the symptoms. This report underscores the need for clinical vigilance and further data collection regarding GCA cases after COVID-19 vaccination.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891406","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}