Modern rheumatology case reports最新文献_第8页

Anti-nuclear matrix protein 2 antibody-positive dermatomyositis associated with smouldering myeloma mimicking anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis: A case of digital gangrene, palmar papules, and scrotal rash. 抗nxp2抗体阳性皮肌炎与模拟抗mda5抗体阳性皮肌炎的阴燃骨髓瘤相关：手指坏疽、手掌丘疹和阴囊皮疹1例

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxaf047

Saloni Patel, Elena Wei, Amy Huang, Ziga Vodusek, Jaroslaw J Jedrych, Jemima Albayda, Jun Kang

{"title":"Anti-nuclear matrix protein 2 antibody-positive dermatomyositis associated with smouldering myeloma mimicking anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis: A case of digital gangrene, palmar papules, and scrotal rash.","authors":"Saloni Patel, Elena Wei, Amy Huang, Ziga Vodusek, Jaroslaw J Jedrych, Jemima Albayda, Jun Kang","doi":"10.1093/mrcr/rxaf047","DOIUrl":"10.1093/mrcr/rxaf047","url":null,"abstract":"Dermatomyositis (DM) is an idiopathic inflammatory myopathy with characteristic cutaneous manifestations and systemic complications, including malignancy and interstitial lung disease (ILD). Myositis-specific autoantibodies (MSAs) define distinct disease subtypes, but significant clinical heterogeneity can still occur. Here, we report a unique case of smouldering myeloma-associated anti-nuclear matrix protein 2 (anti-NXP2) antibody-positive DM mimicking clinical features of anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody-positive DM, including digital ischemia and palmar papules (i.e. inverse Gottron's papules), and severe synovitis without clinically evident myopathy. Additionally, the patient exhibited a rare scrotal rash. This case expands the known spectrum of cutaneous and systemic manifestations in anti-NXP2 antibody-positive DM and emphasises the heterogeneous nature of DM, where significant clinical mimicry can occur despite the presence of a well-defined MSA. It highlights the need for further research into the immune mechanisms and biomarker profiles driving these mimicking DM phenotypes, which could improve early diagnosis, risk stratification, and targeted therapeutic strategies.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144661473","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

Unusual systemic conditions in a patient with giant cell arteritis. 巨细胞动脉炎患者的异常全身状况。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxaf014

Khalid El-Jack, Fawaz Naeem, Jenelle Safadi, Dario Marangoni, Alexander M Solomon, Franz Fogt, Grant T Liu, Madhura A Tamhankar

引用次数: 0

Neurosarcoidosis or granulomatosis with polyangiitis? A complex case of a brain mass. 神经结节病还是肉芽肿伴多血管炎？一个复杂的脑肿块病例。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxaf019

Luisa Fernanda Jiménez-Arcia, Estiven Crespo-Vizcaíno, Alexandra González-Montoya, Alejandro Vélez-Hoyos, Luis Fernando Pinto-Peñaranda

{"title":"Neurosarcoidosis or granulomatosis with polyangiitis? A complex case of a brain mass.","authors":"Luisa Fernanda Jiménez-Arcia, Estiven Crespo-Vizcaíno, Alexandra González-Montoya, Alejandro Vélez-Hoyos, Luis Fernando Pinto-Peñaranda","doi":"10.1093/mrcr/rxaf019","DOIUrl":"10.1093/mrcr/rxaf019","url":null,"abstract":"Sarcoidosis is an immune-mediated systemic disease characterised by the presence of non-caseating granulomas in various parts of the body in the absence of another defined aetiology. Neurologic involvement [neurosarcoidosis (NS)], which occurs in 5-10% of patients with the disease, encompasses a range of clinical and histopathological manifestations that can lead to significant morbidity and mortality. We present a case of a young man with a history of chronic sinusitis, who developed sudden headache associated with seizures. After thorough clinical and paraclinical evaluation, the diagnosis of NS was made once other neurovascular, infectious, metabolic, tumour-related, and immune-mediated aetiologies were ruled out. NS can present as a large dural mass due to nodular pachymeningitis, which can be clinically indistinguishable from other entities such as neoplasms and granulomatosis with polyangiitis. Isolated central nervous system involvement in this entity is rare and usually it is associated with other systemic manifestations. More aggressive management is required to treat this form of sarcoidosis presentation. NS represents a diagnostic challenge and requires ruling out more common entities such as infectious and non-infectious causes like granulomatosis with polyangiitis.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652905","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

Successful control of recurrent MAS by canakinumab in a Sjögren syndrome patient with homozygous MEFV P369S variants and review of literatures. canakinumab在MEFV P369S纯合子变异体干燥综合征患者中成功控制复发性MAS，并复习文献

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxaf016

Nobuyuki Ono, Motoki Yoshimura, Toshiya Nishida, Yusuke Yamauchi, Goro Doi, Yoko Fuyuno, Motoshi Sonoda, Hiroaki Niiro

引用次数: 0

Effect of abatacept added to mycophenolate mofetil for refractory calcinosis in juvenile dermatomyositis. 加入霉酚酸酯治疗青少年皮肌炎难治性钙化的效果。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxaf004

Maho Shimizu, Haruna Nakaseko, Yoshinao Muro, Naomi Iwata

{"title":"Effect of abatacept added to mycophenolate mofetil for refractory calcinosis in juvenile dermatomyositis.","authors":"Maho Shimizu, Haruna Nakaseko, Yoshinao Muro, Naomi Iwata","doi":"10.1093/mrcr/rxaf004","DOIUrl":"10.1093/mrcr/rxaf004","url":null,"abstract":"Calcinosis is an intractable condition in juvenile dermatomyositis (JDM). The effect of abatacept on calcinosis remains controversial. We describe a case of an 8-year-old boy in whom the addition of abatacept to mycophenolate mofetil was effective against calcinosis in JDM. The patient with antinuclear matrix protein 2 autoantibody suffered from refractory jJDM despite long-term treatment with corticosteroids and various immunosuppressive agents. Subcutaneous calcinosis with repeated spontaneous pain at the calcinosis site emerged 2 years after the start of treatment and gradually increased despite clinical improvement in muscle symptoms. The addition of intravenous abatacept to mycophenolate mofetil at the age of 6 years halted the increase in calcinosis. Spontaneous pain in calcinosis disappeared within 2 months. The calcinosis had significantly decreased by 1 year. An important strategy on calcinosis in JDM is getting complete control of the inflammation. Our case report suggests that abatacept may contribute to the improvement of calcinosis in JDM, at least as part of combination therapy with mycophenolate mofetil.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607500","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

Above-knee amputation in a 69-year-old male with gouty tophi complicated by necrotising fasciitis - a case report. 69岁男性痛风性痛风伴坏死性筋膜炎行膝上截肢1例。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxae080

Metasebia Worku Abebe, Abigya Aschalew Asfaw

引用次数: 0

A case of Erdheim-Chester disease-a mimicker of IgG4-related disease and large vessel vasculitis. 一例埃尔德海姆-切斯特病--IgG4 相关疾病和大血管炎的模拟者。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxae086

Ippei Miyagawa, Shingo Nakayamada, Hirotsugu Nohara, Shumpei Kosaka, Masanobu Ueno, Yoshiya Tanaka

{"title":"A case of Erdheim-Chester disease-a mimicker of IgG4-related disease and large vessel vasculitis.","authors":"Ippei Miyagawa, Shingo Nakayamada, Hirotsugu Nohara, Shumpei Kosaka, Masanobu Ueno, Yoshiya Tanaka","doi":"10.1093/mrcr/rxae086","DOIUrl":"10.1093/mrcr/rxae086","url":null,"abstract":"The patient was a 57-year-old man who developed bilateral thigh pain and chest tightness 1 year ago. Chest computed tomography (CT) scan showed reticular shadows, thickened interlobular septa in both lung fields, and pericardial effusion. Three months ago, his symptoms worsened. A contrast CT scan revealed increased pericardial effusion, multiple masses in the right atrium, soft tissue shadows suggestive of retroperitoneal fibrosis, and soft tissue shadows around the thoracic and abdominal aorta. He visited University Hospital of University of Occupational and Environmental Health, Japan suspecting IgG4-related disease (IgG4-RD) or large vessel vasculitis (LVV). Based on the involvement of various organs and bilateral thigh pain, Erdheim-Chester disease (ECD) was suspected, and an 18F-fluorodeoxyglucose Positron Emission Tomography (FDG-PET) scan was performed. In addition to increased accumulation around the right ventricle, right coronary artery, and aorta, increased accumulation was confirmed in the distal femurs and proximal tibias on both sides, strongly suggesting ECD. A bone biopsy confirmed the diagnosis of ECD, showing bone fibrosis with CD68-positive and CD1a-negative foam cell infiltration, which is a characteristic of ECD. ECD is an extremely rare form of non-Langerhans cell histiocytosis. ECD affects a wide variety of organs, and its imaging findings can sometimes resemble those of IgG4-related disease or LVV. However, bone lesions are characteristic of ECD and are a key finding for its diagnosis. When systemic organ lesions, including bone lesions, are present, ECD should be included in the differential diagnosis, and PET-CT should be considered.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839753","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 glucocorticoid-refractory IgA vasculitis with diffuse alveolar haemorrhage: A therapeutic strategy for aberrant immunoglobulin depletion. 糖皮质激素难治性IgA血管炎伴弥漫性肺泡出血一例：异常免疫球蛋白耗竭的治疗策略。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxae087

Kazuhiko Hirokawa, Shunichi Sato, Eiji Hiraoka, Keiichi Iwanami

引用次数: 0

Correction to: A case of atypical IgG4-related disease presenting hypereosinophilia, polyneuropathy, and liver dysfunction. 更正:1例非典型igg4相关疾病，表现为嗜酸性粒细胞增多、多发性神经病变和肝功能障碍。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-25 DOI: 10.1093/mrcr/rxad066

引用次数: 0

Long-term prognosis of Sjögren's syndrome with periodic tetraplegia and distal tubular acidosis, a case report. Sjögren综合征伴周期性四肢瘫痪和远端肾小管酸中毒的远期预后1例。

IF 0.9

Modern rheumatology case reports Pub Date : 2025-07-18 DOI: 10.1093/mrcr/rxaf045

Eiko Hasegawa, Naoki Sawa, Yuki Oba, Hiroki Mizuno, Akinari Sekine, Noriko Inoue, Kiho Tanaka, Masayuki Yamanouchi, Tatsuya Suwabe, Kei Kono, Kenichi Ohashi, Takehiko Wada, Yoshifumi Ubara

引用次数: 0