Case Reports in Rheumatology最新文献

{"title":"Childhood-Onset Takayasu Arteritis With Extensive Vascular Involvement: A Four-Decade Follow-Up Case Report.","authors":"Naylya Djumaeva, Gulnara Achundjanova, Leyla Djumaeva","doi":"10.1155/crrh/6725765","DOIUrl":"10.1155/crrh/6725765","url":null,"abstract":"<p><p>Childhood-onset Takayasu arteritis is rare, and data on outcomes beyond two or 3 decades are exceptionally limited. We report one of the longest documented follow-up observations of childhood-onset Takayasu arteritis, spanning more than 4 decades. The disease began at 9 years of age, and the patient was diagnosed with morphologically confirmed Type III Takayasu arteritis at the age of 16 years. She underwent renal vascular angioplasty and prosthetic reconstruction of the abdominal aorta for left renal artery occlusion associated with severe renovascular hypertension. In 2010, progression of supraaortic vascular disease required aortocarotid bypass surgery, followed six months later by left nephrectomy for persistent severe hypertension. Long-term medical management included individualized intermittent treatment with low-dose prednisolone and methotrexate. Despite extensive vascular involvement, the clinical course was characterized by gradual stabilization, progressively longer periods of clinical stability, and preservation of functional independence. Recent laboratory findings demonstrated only mild elevations in inflammatory markers, while vascular imaging showed chronic extensive arterial lesions with well-developed collateral circulation, preserved cardiac function, and preserved function of the solitary right kidney. The favorable long-term course was likely multifactorial, reflecting staged vascular reconstruction, individualized medical management, and adaptive collateral circulation. This case provides rare insight into the long-term evolution and management of severe childhood-onset Takayasu arteritis.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"6725765"},"PeriodicalIF":0.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849909","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}

{"title":"Overlap Myositis in a Patient With Psoriasis Treated With Anti-TNF-Alpha Therapy: A Case Report and Review of Literature.","authors":"Carlos H Colegial, Paula V Gaete","doi":"10.1155/crrh/6133434","DOIUrl":"10.1155/crrh/6133434","url":null,"abstract":"<p><p>Overlap myositis refers to the simultaneous occurrence of myositis and another systemic autoimmune disease. Association between psoriasis and inflammatory myopathy is uncommon. Tumor necrosis factor (TNF)-alpha antagonists are used to treat patients with psoriasis and arthritis associated with psoriasis. Although the use of TNF-alpha-blocking agents increases the risk of developing myopathy more than 4 times in people with psoriasis, this association is underrecognized. Here, we describe the case of a young male who developed inflammatory myopathy after the use of TNF-alpha blocking therapy for the treatment of psoriasis, associated with cN-1A and NXP2 autoantibodies. After cessation of the TNF-alpha blocking agent and pulse corticosteroid therapy, the patient showed a good response, with increased muscle strength and decreased creatine kinase levels. This case highlights the importance of monitoring for muscle symptoms in patients treated with anti-TNF-alpha agents and the heterogeneous clinical phenotypes that can occur with each autoantibody.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"6133434"},"PeriodicalIF":0.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849901","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}

{"title":"Recurrent Sterile Pleuropericarditis After Withdrawal of Renal Transplant Immunosuppression in Anuric ESRD: A Case of Suspected IL-1-Mediated Autoinflammation.","authors":"Evelien van Gelderen, Phillip Wagner, Ross Gilbert","doi":"10.1155/crrh/2469859","DOIUrl":"10.1155/crrh/2469859","url":null,"abstract":"<p><p>Recurrent pericarditis and serositis pose a significant diagnostic challenge in patients with end-stage renal disease (ESRD) and a history of extensive immunosuppression. A 29-year-old man with anuric ESRD secondary to IgA nephropathy on intermittent hemodialysis, with a history of 2 failed kidney transplantations followed by posttransplant nephrectomies and recent withdrawal of immunosuppression, presented with recurrent fevers, pericarditis, pleural effusions, and pericardial effusions. Fevers were unresponsive to multiple courses of broad-spectrum antibiotics. A broad malignancy workup, including imaging, PET scan, cytology, and microbial cell-free DNA was unremarkable. Multiple rounds of blood, pleural fluid, and pericardial fluid studies were negative for infectious etiologies, and serologic studies were unremarkable. Given the negative workup and clinical response to anti-inflammatory therapy, his presentation was most consistent with an IL-1-mediated autoinflammatory phenotype such as idiopathic recurrent pericarditis or undifferentiated systemic autoinflammatory disorder. Rilonacept was attempted as an IL-1-targeted alternative because of long-term colchicine toxicity concerns in ESRD; however, exposure was limited, and sustained disease control occurred after resumption of colchicine. This case highlights the need for further study of IL-1 inhibitor use in ESRD patients, a population with limited representation in landmark recurrent pericarditis trials such as RHAPSODY and AIRTRIP.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"2469859"},"PeriodicalIF":0.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13494347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788592","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}

{"title":"A Case of Critical Digit Ischemia in a Patient With Suspected Seronegative Scleroderma Diagnosed via Nailfold Capillaroscopy.","authors":"Matthew Kornas, Charis Wang, Sehreen Mumtaz, Adrian G Dumitrascu, Florentina Berianu","doi":"10.1155/crrh/7668313","DOIUrl":"10.1155/crrh/7668313","url":null,"abstract":"<p><p>Systemic sclerosis (scleroderma) can manifest with advanced symptoms of ischemic vasculopathy, including digital ulcer development. These ulcerations can be disabling and detrimental to a patient's quality of life, so prompt diagnosis, differentiation from other vascular etiologies, and treatment are important to help salvage this tissue. However, diagnosis of scleroderma can be challenging in the setting of seronegative disease. Nailfold capillaroscopy is a vital tool that can assist with diagnosis in seronegative cases. Scleroderma pattern findings on nailfold capillaroscopy include dilated or giant capillaries, capillary hemorrhages, and dropouts. Pharmacologic and surgical modalities can effectively treat vascular complications from scleroderma. Vasodilation therapy with prostacyclin analogs, calcium channel blockers, or angiotensin II receptor blockers can improve ischemic tissue perfusion. Surgical sympathectomy should be offered to treat ulcerative tissue and improve related pain control. We present a case of seronegative scleroderma in a patient with digital ischemic ulcerations that was expediently diagnosed and treated with assistance of nailfold capillaroscopy.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"7668313"},"PeriodicalIF":0.0,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13490826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788554","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}

{"title":"First-Line Tocilizumab Monotherapy for Juvenile Systemic Sclerosis With Interstitial Lung Disease: A Case Report.","authors":"Tadafumi Yokoyama, Natsumi Inoue, Satoshi Watanabe, Takashi Matsushita, Taizo Wada","doi":"10.1155/crrh/2914024","DOIUrl":"10.1155/crrh/2914024","url":null,"abstract":"<p><p>Systemic sclerosis, a rare autoimmune disease in children, frequently presents with aggressive clinical features and high risk of interstitial lung disease. Tocilizumab, an anti-interleukin-6 receptor monoclonal antibody, has exhibited efficacy in adult systemic sclerosis with interstitial lung disease; however, evidence in pediatric cases remains extremely limited. We report a 12-year-old Japanese girl who developed early-stage juvenile systemic sclerosis with interstitial lung disease, presenting with Raynaud's phenomenon, puffy fingers, positive anti-topoisomerase I antibody, reduced pulmonary function, and ground-glass opacities on high-resolution computed tomography. Consequently, tocilizumab monotherapy was initiated. During a follow-up period of over 3 years, her pulmonary function remained stable, and high-resolution computed tomography showed partial resolution of interstitial changes. No significant adverse events, such as severe infections or cytopenias, were observed. Early tocilizumab initiation may represent a potential therapeutic option for juvenile systemic sclerosis with interstitial lung disease. However, further studies are warranted to validate its role and optimize treatment guidelines for this rare but severe condition.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"2914024"},"PeriodicalIF":0.0,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13463306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148721198","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}

{"title":"Myopericarditis in Systemic Lupus Erythematosus Unmasking a Concomitant Diagnosis of Marfan Syndrome: A Case Report.","authors":"Guilherme Cabrera, Gabriella Neves, Wellinghton Dias, Edson Duarte, Klinger Soares Faíco-Filho","doi":"10.1155/crrh/1055310","DOIUrl":"10.1155/crrh/1055310","url":null,"abstract":"<p><strong>Introduction: </strong>Cardiovascular complications represent a major source of morbidity and mortality in systemic lupus erythematosus (SLE). While pericarditis is common, acute myopericarditis leading to significant systolic dysfunction is a less frequent but potentially life-threatening manifestation. The diagnostic evaluation can be complicated by overlapping clinical features and the presence of underlying, undiagnosed comorbidities. Hereditary connective tissue disorders, such as Marfan syndrome, present their own spectrum of cardiovascular risks, and their coexistence with autoimmune diseases like SLE is rare and poses significant diagnostic and therapeutic challenges.</p><p><strong>Case presentation: </strong>We present the case of a 32-year-old woman with a long-standing diagnosis of SLE who was admitted with new-onset heart failure. Her symptoms included progressive dyspnea and pleuritic chest pain. The initial workup revealed active systemic inflammation, a newly reduced left ventricular ejection fraction of 44%, and a significant fusiform aneurysm of the ascending aorta (4.4 cm) associated with a bicuspid aortic valve. Cardiac magnetic resonance imaging was highly suggestive of active myopericarditis. While the initial findings were attributed to her lupus, the significant aortopathy in a young patient, combined with high myopia and a slender build, prompted further investigation. A formal clinical evaluation confirmed a diagnosis of Marfan syndrome based on the revised Ghent nosology. The patient responded favorably to intensified immunosuppression for her myopericarditis and was concurrently started on guideline-directed medical therapy for her aortopathy.</p><p><strong>Conclusion: </strong>This case underscores the importance of maintaining a broad differential diagnosis in complex clinical presentations. The diagnosis of lupus myopericarditis was complicated and ultimately overshadowed by the unmasking of Marfan syndrome, a finding that fundamentally altered the patient's long-term prognosis and management strategy. This report highlights the critical need for a multidisciplinary approach and illustrates how a seemingly straightforward complication of a known disease can be the gateway to identifying a second, life-altering diagnosis.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"1055310"},"PeriodicalIF":0.0,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13424611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148652861","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}

{"title":"Multierosive Juvenile Idiopathic Arthritis With Positive Rheumatoid Factor: A Case Report of a Young Girl Followed at the University Clinics of Bukavu.","authors":"Delphin Murhula Katabana, Théophile Barhwamire Kabesha, Rodrigue Mupenda Mwenibamba, Roland Lwandiko Cibenda, Paul Ngongo Tshonda, Archippe Birindwa Muhandule, Philippe Katchunga Bianga, Tony Shindano Akilimali","doi":"10.1155/crrh/9884531","DOIUrl":"10.1155/crrh/9884531","url":null,"abstract":"<p><p>Polyarticular juvenile idiopathic arthritis (JIA) with positive rheumatoid factor is a rare and severe form of chronic inflammatory rheumatism in children. We report the case of a young girl treated at the University Clinics of Bukavu (eastern DR Congo), whose disease began at the age of 10. The course of the disease was characterized by highly inflammatory polyarthritis with severe multierosive lesions. Immunological testing revealed positivity for rheumatoid factor and anti-CCP antibodies. Diagnosis and treatment were delayed for approximately nine years (2008-2017). Management was complicated by poor adherence and discontinuation of methotrexate and corticosteroids. The patient subsequently died to recurrent infectious complications and hypertension. This case illustrates the impact of diagnostic delay and difficulties in accessing care on the prognosis of severe forms of JIA in resource-limited settings.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"9884531"},"PeriodicalIF":0.0,"publicationDate":"2026-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13402889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148599298","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}

{"title":"Successful Treatment of Anti-Jo-1 Positive Inflammatory Myopathy With Tofacitinib.","authors":"Janis Timsans, Anna-Mari Hokkanen, Joonas Rautavaara, Anne Kerola, Sanna Huovinen, Markku Kauppi","doi":"10.1155/crrh/6478835","DOIUrl":"10.1155/crrh/6478835","url":null,"abstract":"<p><p>Idiopathic inflammatory myopathies are, in some cases, refractory to all guideline-based treatments, posing a very difficult challenge in clinical practice. Janus kinase inhibitors are a rather new class of disease-modifying antirheumatic drugs that are approved for the treatment of rheumatoid arthritis, spondyloarthritis, and psoriatic arthritis, but have been used as an off-label treatment only in a very limited number of cases in inflammatory myopathies. In this case report, we present a middle-aged woman with severe muscle weakness and pain attributed to refractory myositis associated with anti-Jo-1 antibody. Despite multiple treatment attempts, which included all guideline-based immunosuppressants, the patient's condition remained unresponsive. Initiation of tofacitinib therapy resulted in significant clinical improvement, normalization of creatinine kinase levels, and being possible to discontinue glucocorticoids. Our findings highlight the potential efficacy of tofacitinib in refractory inflammatory myopathies, and to our knowledge, our case is the first one to demonstrate the efficacy of a Janus kinase inhibitor in anti-Jo-1 positive myopathy without interstitial lung disease.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"6478835"},"PeriodicalIF":0.0,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13239388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197227","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}

{"title":"A Case of Neural Tube Defect in Early Pregnancy Following Sulfasalazine Exposure Without Folic Acid Supplementation.","authors":"Francesca Holden, Rodney Hughes","doi":"10.1155/crrh/8352167","DOIUrl":"10.1155/crrh/8352167","url":null,"abstract":"<p><strong>Background: </strong>Sulfasalazine is a widely used disease-modifying antirheumatic drug (DMARD) for inflammatory arthritis and is generally considered safe in pregnancy when co-prescribed with folic acid. However, its antifolate effects may influence folate metabolism, which is a recognised pathway associated with neural tube defects, particularly when folate supplementation is inadequate.</p><p><strong>Case presentation: </strong>A 34-year-old woman conceived shortly after starting sulfasalazine without folic acid supplementation. Her pregnancy was complicated by fetal spina bifida and ventriculomegaly detected at 20 weeks' gestation, leading to termination. She had borderline-low serum folate before conception (3.7 μg/L). No other teratogenic exposures were identified.</p><p><strong>Conclusion: </strong>This case highlights the importance of preconception counselling and adherence to high-dose folic acid (5 mg daily) in women of childbearing potential receiving sulfasalazine. While causality cannot be inferred, it draws attention to a potentially modifiable factor within the multifactorial aetiology of neural tube defects. It also reinforces that medications regarded as safe in pregnancy may still be associated with preventable risk when recommended supplementation is omitted.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"8352167"},"PeriodicalIF":0.0,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13239456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197242","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}

{"title":"Case Report: Secukinumab Experience in a Patient With Coexistence of Systemic Lupus Erythematosus, Ankylosing Spondylitis, and Antiphospholipid Antibody Syndrome.","authors":"Enes Basaran, Busra Yaprak Bayrak, Duygu Temiz Karadag, Ayten Yazici, Ayse Cefle","doi":"10.1155/crrh/4852681","DOIUrl":"10.1155/crrh/4852681","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by autoantibody production and immune complex deposition. Antiphospholipid syndrome (APS) is frequently associated with SLE and is characterized by arterial or venous thrombosis and pregnancy morbidity in the presence of persistent antiphospholipid antibodies. The coexistence of ankylosing spondylitis (AS) with SLE and APS is extremely rare. A 38-year-old woman was admitted to our clinic with gangrene of the right fifth toe and swelling of both knees. She had a previous diagnosis of AS based on inflammatory low back pain and radiographic evidence of bilateral Grade 4 sacroiliitis. Laboratory investigations revealed positive antinuclear antibody, anti-double-stranded DNA, and antiphospholipid antibodies, including lupus anticoagulant and anti-cardiolipin IgG. Renal biopsy performed due to proteinuria demonstrated mesangioproliferative lupus nephritis. Based on clinical, laboratory, and histopathological findings, the patient was diagnosed with coexisting AS, SLE, and APS. Considering the coexistence of these autoimmune diseases and the patient's previous exposure to anti-tumor necrosis factor therapy, treatment with the interleukin-17 inhibitor secukinumab was initiated. The patient showed significant improvement in inflammatory back pain and arthritis during follow-up. To our knowledge, this is one of the rare reported cases of coexistence of AS, SLE, and APS treated with secukinumab.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"2026 ","pages":"4852681"},"PeriodicalIF":0.0,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13240502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197249","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}