Modern rheumatology case reports最新文献

{"title":"Tense blisters and haemorrhagic bullae as the first manifestation of eosinophilic granulomatosis with polyangiitis.","authors":"Hajime Inokuchi, Mitsuhiro Akiyama, Hiroto Horikawa, Yasushi Kondo, Shuntaro Saito, Jun Kikuchi, Hironari Hanaoka, Yuko Kaneko","doi":"10.1093/mrcr/rxae056","DOIUrl":"10.1093/mrcr/rxae056","url":null,"abstract":"<p><p>Eosinophilic granulomatosis with polyangiitis poses a significant diagnostic challenge due to its varied clinical presentation. Here, we present a case of a 59-year-old female with a history of asthma and sinusitis, who manifested with an extremely rare presentation of drastic tense blisters and haemorrhagic bullae alongside purpuric lesions and peripheral neuropathy. Examinations revealed eosinophilia, positive antineutrophil cytoplasmic antibody, and characteristic pathological findings with small-vessel vasculitis in the purpura. Treatment with glucocorticoids and cyclophosphamide led to rapid improvement in peripheral eosinophilia, skin manifestations, and motor neuron deficits. Although rare, our case underscores that bullous skin lesions should be recognised as a potential cutaneous hallmark of eosinophilic granulomatosis with polyangiitis to aid timely diagnosis, since prompt treatment initiation is crucial given the potential irreversible organ damage and poor prognosis of eosinophilic granulomatosis with polyangiitis.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"149-154"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305107","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":"Reply to the letter from Suzuki K et al.","authors":"Koto Hattori, Shigeru Tanaka, Hiroshi Nakajima","doi":"10.1093/mrcr/rxae052","DOIUrl":"10.1093/mrcr/rxae052","url":null,"abstract":"","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"66-67"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116535","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":"Isolated adrenocorticotropic hormone deficiency presenting with arthritis: A case report.","authors":"Yuya Yamashita, Seidai Sato, Kaori Nii, Kensuke Mori, Keiko Haji, Nobuhito Naito, Hirokazu Ogino, Hiroshi Kawawno, Masaki Hanibuchi, Itsuro Endo, Yasuhiko Nishioka","doi":"10.1093/mrcr/rxae057","DOIUrl":"10.1093/mrcr/rxae057","url":null,"abstract":"<p><p>This case report describes a case of isolated adrenocorticotropic hormone (ACTH) deficiency that presented with arthritis. Initial investigations, including blood tests, imaging, and musculoskeletal ultrasonography, did not confirm any specific connective tissue disease, making it initially difficult to identify the cause of the arthritis. Subsequent adrenal crisis led to the diagnosis of isolated ACTH deficiency through comprehensive endocrine evaluation. The patient's musculoskeletal symptoms, together with generalised symptoms, were resolved following corticosteroid replacement therapy. This report highlights isolated ACTH deficiency as a rare but one of the causes of polyarticular joint pain and underscores the importance of considering endocrine disorders in the differential diagnosis of unexplained arthritis, particularly when accompanied by systemic symptoms.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"10-14"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368096","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 eosinophilic granulomatosis with polyangiitis preceded by allergic bullous lesions.","authors":"Eiko Hasegawa, Momoko Iijima, Akinari Sekine, Noriko Inoue, Kiho Tanaka, Tatsuya Suwabe, Masayuki Yamanouchi, Yuki Oba, Ayako Kume, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Yutaka Yamaguchi, Yasuhiro Suyama, Takehiko Wada, Naoki Sawa, Kotono Takahashi, Shigeharu Ueki, Yoshifumi Ubara","doi":"10.1093/mrcr/rxae046","DOIUrl":"10.1093/mrcr/rxae046","url":null,"abstract":"<p><p>A 62-year-old man with a history of diabetes mellitus was hospitalised with numbness of lower limbs, bullous lesions of the whole body, kidney dysfunction, presence of eosinophils, and elevated antineutrophil cytoplasmic antibodies to myeloperoxidase and anti-bullous pemphigoid 180 antibodies and was diagnosed with mononeuritis multiplex. Kidney and muscle biopsies showed vasculitis with fibrinoid necrosis, whereas skin biopsies showed only blister formation between the epidermis and dermis; a high eosinophilic infiltrate was present in all three tissues. These findings led to a diagnosis of eosinophilic granulomatosis with polyangiitis combined with allergic bullous lesions. Immunohistological examination indicated cytolytic eosinophils and extracellular traps, suggesting the presence of eosinophil extracellular trap cell death (eosinophil ETosis) in diseased tissue.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"143-148"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305104","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":"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":"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":"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":"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}