Modern rheumatology case reports最新文献

{"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":"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":" ","pages":"20-26"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","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}

{"title":"Neurosarcoidosis-induced winging scapula: Efficacy of infliximab treatment in addressing multifaceted challenges.","authors":"Richa Purohit, Ravi Shahu Khal, Kathleen McCabe, Neha Bhanusali, Maria Farooq, Shazia Beg","doi":"10.1093/mrcr/rxae030","DOIUrl":"10.1093/mrcr/rxae030","url":null,"abstract":"<p><p>Sarcoidosis, a systemic granulomatous disease primarily affecting the respiratory and lymphatic systems, can rarely manifest as neurosarcoidosis either in isolation or alongside other systemic symptoms. Here, we describe the case of a 45-year-old male with a history of recurrent sinusitis refractory to antibiotics, who presented to the emergency department with sinus congestion and dysphagia. Clinical examination revealed left lower motor neuron facial palsy and enlarged submandibular salivary glands. Despite obtaining negative results from various antibody panels, the patient exhibited elevated angiotensin-converting enzyme levels of 83 nmol/kg/min. Additionally, computed tomography chest scans revealed bilateral hilar and mediastinal lymph node enlargement, findings consistent with sarcoidosis. Otorhinolaryngology evaluation for dysphagia confirmed left vocal cord palsy. Following a negative infectious disease workup, submandibular salivary gland biopsy confirmed sarcoidosis. Treatment with mycophenolate mofetil and oral steroids led to gradual improvement in salivary gland swelling, dysphagia, and facial palsy. However, worsening left shoulder pain prompted further investigation, revealing winging of the left scapula on repeat examination. Magnetic resonance imaging (MRI) of the cervical spine revealed a 6-mm hyperintensity in the left dorsal cord at the C5 level, suggesting possible neurosarcoidosis vs. demyelinating disease. Subsequently, the patient was prescribed anti-tumour necrosis factor alpha inhibitor infliximab. Subsequent MRI of the cervical spine, conducted 6 months after initiating infliximab therapy, indicated resolution of the lesions. This positive outcome was supported by the patient's report of symptom improvement, notably reduced shoulder pain and improvement in left scapular winging. This case underscores the unusual co-occurrence of Bell's palsy and vocal cord palsy in the same patient, along with the potential contribution of neurosarcoidosis to the winged scapula. Additionally, it sheds light on the positive response of neurosarcoidosis to infliximab therapy.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"184-187"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082928","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":"Transient perivascular inflammation of the carotid artery syndrome - A rare differential for anterior neck pain: Series of three cases and review of literature.","authors":"Navaneeth Kamath, Reena Kharkhele, Rajendra Waghela, Anup Aggrawal, John Mathew, Shivraj Padiyar","doi":"10.1093/mrcr/rxae031","DOIUrl":"10.1093/mrcr/rxae031","url":null,"abstract":"<p><p>We report a series of three cases of transient perivascular inflammation of the carotid artery (TIPIC) syndrome in an otherwise healthy individual. We would also like to review this rare entity and compare it with other similar cases reported in the literature. Our first case was a young male with right-sided neck pain of 1-week duration with magnetic resonance imaging (MRI) showing right carotid perivascular inflammation which completely resolved after 2 weeks with anti-inflammatory drugs. In the second case, a young male presented with left-sided neck pain and odynophagia of 5 days duration with an MRI showing left carotid perivascular inflammation which completely resolved after 2 weeks with anti-inflammatory drugs. In the third case, a young male presented with right-sided neck pain of 1-day duration with an MRI showing right common carotid perivascular inflammation near the bifurcation with complete resolution in pain but with residual wall thickening. We want to highlight the existence of this new entity by reporting these three case series with a brief review of the literature. The cause and pathogenesis of this rare entity remain unknown. It has been hypothesised to be autoimmune or viral-mediated inflammation which requires further understanding.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"122-126"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082933","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":"Visceral disseminated varicella zoster virus infection masquerading as lupus mesenteric vasculitis recurrence.","authors":"Koji Suzuki, Mitsuhiro Akiyama, Yuko Kaneko","doi":"10.1093/mrcr/rxae051","DOIUrl":"10.1093/mrcr/rxae051","url":null,"abstract":"","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"63-65"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116536","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":"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, Sankar Jayaprakash, V Vasdev, Ashish Chandwani","doi":"10.1093/mrcr/rxae039","DOIUrl":"10.1093/mrcr/rxae039","url":null,"abstract":"<p><p>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. A majority of 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 antiribosomal 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":" ","pages":"57-62"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","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}

{"title":"Multifocal osteonecrosis due to the synergistic impact of inherited thrombophilia, autoimmunity, and pregnancy: A case report.","authors":"Jayakrishnan C Menon, Nachiketa Parmar, Kausik Mandal, Prabhaker Yadav, Rajanikant Yadav, Subhash Yadav","doi":"10.1093/mrcr/rxae063","DOIUrl":"10.1093/mrcr/rxae063","url":null,"abstract":"<p><p>Multifocal osteonecrosis is a rare entity which can lead to bone fragility, fractures, and considerable morbidity. The objective of this report is to describe the presentation, evaluation, and management of a case of multifocal osteonecrosis. A 34-year-old lady presented with multiple fractures and bone pain which was exacerbated during pregnancy. She was found to have osteonecrosis involving multiple sites. Investigation revealed that she had an undefined autoimmune condition with antinuclear antibody and anti-Ro (SS-A) positivity, not fulfilling criteria for diagnosis of Sjogren syndrome. She had low Protein S (PS) levels for age and gender (confirmed on two occasions 12 weeks apart outside pregnancy). She had a novel variant in the PROS1 gene (NM_000313.4:c.1513 G > A; p.Gly505Ser) which is associated with heterozygous PS deficiency. She had a good response to treatment with anticoagulation. The combination of inherited thrombophilia, autoimmunity, and the thrombophilic state induced by pregnancy probably contributed to the severe phenotype in this patient. The variant was identified in the Lamin G1 domain, which is instrumental in PS binding to tissue factor pathway inhibitor and C4-binding protein, thus playing a role in both the coagulation and complement pathway, and could explain the coexistence of autoimmunity with thrombophilia. This variant is present in 0.034% of South Asians in the gnomAD population database, and may represent an important cause of inherited thrombophilia in this group.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"46-52"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142373949","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":"Induced membrane technique and intramedullary beaming for the extensive bone defect of the talonavicular joint: A case report and literature review.","authors":"Yuki Ohue, Kosho Togei, Hiroaki Shima, Yoshihiro Hirai, Ken Tanaka, Masashi Neo","doi":"10.1093/mrcr/rxae048","DOIUrl":"10.1093/mrcr/rxae048","url":null,"abstract":"<p><p>Cases involving both the induced membrane technique and intramedullary beaming are generally rare. Here, we report such a case in an 83-year-old man who suffered from left midfoot pain. Pyogenic arthritis was suspected based on clinical findings, and curettage was performed, revealing an extensive bone defect. The patient was clinically diagnosed with seronegative rheumatoid arthritis. Therefore, the patient underwent both induced membrane technique and intramedullary beaming for the extensive bone defect in the talus and navicular regions caused by seronegative rheumatoid arthritis. The patient exhibited satisfactory short-term outcomes.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"35-40"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134959","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":"Löfgren syndrome, characteristics of Japanese cases: A case and a review of the literature.","authors":"Hirokazu Taguchi, Shuji Sumitomo, Hideki Oka, Shigeo Hara, Koichiro Ohmura","doi":"10.1093/mrcr/rxae034","DOIUrl":"10.1093/mrcr/rxae034","url":null,"abstract":"<p><p>Löfgren syndrome (LS) is a sarcoidosis subtype characterised by an acute disease course, bilateral hilar lymphadenopathy (BHL), erythema nodosum (EN), and ankle arthritis. LS in Caucasians appears to be self-limiting; however, our patients require glucocorticoid (GC) treatment. Here, we present a case of LS and review the literature to identify the characteristics of Japanese patients with LS. A 66-year-old woman was referred to Kobe City Medical Center General Hospital; she initially presented with an acute onset of low-grade fever and ankle arthritis, followed by EN. Skin biopsy revealed a noncaseating granuloma, and a chest computed tomography scan displayed BHL; she was diagnosed with LS. Her arthralgia ameliorated spontaneously, but the erythema persisted, necessitating GC treatment. A literature review revealed that the Japanese LS patients showed more fever, were more frequently treated with GCs, and more patients seemed to relapse, which may be explained by the absence of human leucocyte antigen-DR isotype 3, a good prognostic allele in Caucasians. Japanese LS may cause severe symptoms after development because of the differences in human leucocyte antigens from foreign countries. For early diagnosis, it is important to evaluate EN and BHL in patients with polyarthritis involving ankle arthralgia.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"193-199"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857475","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":"Adalimumab-induced CNS demyelination in a patient with multiple pre-existing autoimmune diseases: Treatment contemplation.","authors":"Sepehr Khosravi, Babak Zamani, Mohammad Reza Motamed, Fahimeh H Akhoundi","doi":"10.1093/mrcr/rxae069","DOIUrl":"10.1093/mrcr/rxae069","url":null,"abstract":"<p><p>Anti-tumour necrosis factor (TNF) agents like adalimumab are safe and effective for rheumatologic disorders, but they have been reported to cause demyelinating diseases like multiple sclerosis. A 47-year-old woman with weakness in the left hand was evaluated. She had a previous medical history of intermediate uveitis and rheumatoid arthritis. Anti-TNF-α treatment was initiated with adalimumab 2 years before this visit. Magenetic resonance imaging showed numerous T2-hyperintense lesions in bilateral periventricular, juxtacortical, and subcortical areas, which were absent in her scan before anti-TNF therapy. She was diagnosed with multiple sclerosis, and adalimumab was discontinued. IV glucocorticoids were administered with marked improvement. She was then started on anti-CD20 therapy with rituximab. A year later, she was symptom-free, and her follow-up brain magnetic resonance imaging showed no new lesions. The link between multiple sclerosis and TNF-α inhibitors is poorly understood, but several hypotheses have been proposed. Discontinuing anti-TNF therapy alone may not be enough to prevent further demyelinating disease activity, and it is essential to consider the necessity of starting a disease-modifying treatment. Autoimmunity plays a significant role in rheumatologic and neurological diseases, and as personalised medicine advances, understanding genetic risk is crucial for selecting appropriate therapeutic targets. A thorough evaluation of a patient's family background is recommended before a therapeutic decision-making, especially in patients with multiple autoimmune disorders, and the question of whether TNF-α is a suitable therapeutic target in patients with multiple autoimmune disorders is raised.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"75-78"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592336","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":"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":"10.1093/mrcr/rxae047","url":null,"abstract":"<p><p>Immunoglobulin G4-related disease (IgG4-RD) 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 IgG4-RD 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 the remission of both atopic dermatitis and IgG4-RD without glucocorticoid dose escalation. Peripheral blood flow cytometry analysis showed that the proportions of activated non-Th1/Th17 cell 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 IgG4-RD.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"207-213"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","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}