Takashi Uechi, Tomoko Horinouchi, Yuta Inoki, Yu Tanaka, Hideaki Kitakado, Chika Ueda, China Nagano, Masato Yamaguchi, Yoriko Tsuji, Kandai Nozu
{"title":"12-Year-old girl with systemic lupus erythematosus complicated by gangrene and intermittent claudication.","authors":"Takashi Uechi, Tomoko Horinouchi, Yuta Inoki, Yu Tanaka, Hideaki Kitakado, Chika Ueda, China Nagano, Masato Yamaguchi, Yoriko Tsuji, Kandai Nozu","doi":"10.1093/mrcr/rxaf006","DOIUrl":"10.1093/mrcr/rxaf006","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) can present with various symptoms, including rare manifestations such as gangrene. This report describes a 12-year-old girl with SLE who presented with intermittent claudication and gangrene. Although intermittent claudication is rare in paediatric cases, it is essential to consider vascular diseases including those associated with SLE as a potential cause. The patient initially experienced pain, redness, and cold sensations in the right great toe accompanied by intermittent claudication, with symptoms worsening over time. Diagnostic imaging, including contrast-enhanced computed tomography and magnetic resonance imaging, revealed occlusion of the right popliteal artery with associated vasculitis and thrombosis. The diagnosis of SLE and antiphospholipid syndrome was confirmed based on clinical criteria. Treatment included prednisone, methylprednisolone pulse therapy, mycophenolate mofetil, hydroxychloroquine, and anticoagulants. The patient showed significant improvement, with resolution of claudication and effective management of her gangrene through immunosuppressive therapy and careful wound care. This case highlights the importance of considering vascular complications in paediatric SLE and underscores the need for early diagnosis and comprehensive treatment.</p>","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":"143082957","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":"Seronegative rheumatoid arthritis found in an 85-year-old woman during preoperative investigations for knee replacement surgery for osteoarthritis.","authors":"Haruka Nakano, Makoto Hirao, Dong Seop Kim, Gensuke Okamura, Yoshihiko Hoshida, Takaaki Noguchi, Yuki Etani, Kosuke Ebina, Seiji Okada, Jun Hashimoto, Shiro Ohshima","doi":"10.1093/mrcr/rxae076","DOIUrl":"10.1093/mrcr/rxae076","url":null,"abstract":"<p><p>This report describes the case of an 85-year-old woman who was found to have seronegative rheumatoid arthritis during preoperative investigations for knee replacement surgery for osteoarthritis. Follow-up for knee osteoarthritis was continued for many years without any symptoms involving other joints. Before total knee arthroplasty for osteoarthritis, preoperative investigations revealed a highly inflammatory state. After differential diagnosis, seronegative rheumatoid arthritis was diagnosed. Even in preoperative investigations before total knee arthroplasty for very old patients with osteoarthritis, the possibility of rheumatoid arthritis developing should always be kept in mind.</p>","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":"142808388","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}
Mona Terkmani, Yasmin Najjar, Fatema Naddaf, Sana Shaikh Torab, Taher Sawas, Sami Albitar
{"title":"A rare large-vessel involvement in a patient with a clinical diagnosis of granulomatosis with polyangiitis: A case report.","authors":"Mona Terkmani, Yasmin Najjar, Fatema Naddaf, Sana Shaikh Torab, Taher Sawas, Sami Albitar","doi":"10.1093/mrcr/rxaf021","DOIUrl":"10.1093/mrcr/rxaf021","url":null,"abstract":"<p><p>A previously healthy 22-year-old female presented with complaints of fatigue, joint pain, headache, fever, and night sweats for several months. She also reported a reddish painful left eye and a rash on her legs 2 months ago. On examination, her blood pressure was elevated at 160/100 mmHg and her lower limb pulses were hardly palpable. On investigation, she had anterior and intermediate uveitis, nasal septal ulcer, proteinuria, positive cytoplasmic anti-neutrophil cytoplasmic antibodies (C-ANCA), and a computed tomography angiography showed multiple abdominal aortic aneurysms and occlusion of both the left common carotid artery and the right superficial femoral artery. Lymph node biopsy showed necrotising granulomatous inflammation. The patient was diagnosed with granulomatosis with polyangiitis (GPA) with large-vessel involvement, which is a rare finding.</p>","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":"144145328","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":"Severe osteolysis following metacarpophalangeal arthroplasty with silicone implants: a case report.","authors":"Keishiro Kikuchi, Takuji Iwamoto, Yasuhiro Kiyota, Akiko Torii, Taku Suzuki, Noboru Matsumura, Akihisa Ueno, Hajime Okita, Masaya Nakamura","doi":"10.1093/mrcr/rxaf046","DOIUrl":"10.1093/mrcr/rxaf046","url":null,"abstract":"<p><p>We report a rare case of severe osteolysis following metacarpophalangeal (MP) joint arthroplasty using silicone implants in a patient with rheumatoid arthritis. A 72-year-old woman presented with painless masses on the dorsum of the left hand 6 years after MP joint arthroplasty using Sutter-type silicone implants. Radiographic evaluation revealed implant-associated osteolysis and cortical perforation of the second to fifth metacarpals. Revision arthroplasty was performed using grommet-equipped Swanson-type silicone implants combined with synovectomy and iliac bone grafting for severe palmar bone loss. One year later, similar osteolysis occurred in the right hand, and revision arthroplasty was again performed using Swanson-type implants without the need for bone grafting. The postoperative course was uneventful, and no recurrence of osteolysis or implant-related complications was observed over a 7-year follow-up period. Silicone synovitis is a recognised complication of silicone implant arthroplasty, caused by wear debris triggering chronic inflammation and bone resorption. This case highlights the importance of early detection and intervention for implant-related osteolysis. In cases where bone defects remain manageable, revision with grommet-equipped silicone implants can be a viable and durable treatment option. Surgeons should be aware of this potentially severe complication, as delayed intervention may preclude the use of silicone implants altogether due to extensive bone loss.</p>","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":"144661476","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}
Behich Koyutourk, Havva Cobanogullari, Ilke Beyitler, Mahmut Cerkez Ergoren
{"title":"A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.","authors":"Behich Koyutourk, Havva Cobanogullari, Ilke Beyitler, Mahmut Cerkez Ergoren","doi":"10.1093/mrcr/rxaf055","DOIUrl":"10.1093/mrcr/rxaf055","url":null,"abstract":"<p><p>Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an example of a rare non-inflammatory familial arthropathy inherited in an autosomal recessive manner. The proteoglycan 4 (PRG4) gene, located on chromosome 1q25-q31, is responsible for encoding a lubricating glycoprotein found in the synovial fluid and on the surface of articular cartilage. Pathogenic mutations in the PRG4 gene have been associated with CACP disease. The present study investigated the clinical and molecular findings of the patient with CACP. Whole-genome sequencing was performed in this patient to investigate the genomic variations. The case presented in this study is a 20-year-old male who was admitted to the clinic. He had swelling in his wrists and limited mobility in his elbows as well as a family history of anaemia. The patient was initially diagnosed with juvenile idiopathic arthritis (JIA). Further genetic testing revealed a homozygous frameshift variant in the PRG4 gene (C.1290del; p.T431Lfs*481), which was classified as likely pathogenic and consistent with a diagnosis of CACP. Although this specific variant has been previously reported in the literature, this study contributes to the existing body of knowledge by emphasising the importance of comprehensive genetic analysis in differentiating CACP from other childhood rheumatic diseases such as JIA. Additionally, we discuss its location in exon 7 and potential effects on gene expression, including the possibility of nonsense-mediated decay or a truncated protein product.</p>","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":"144984367","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":"Infraorbital nerve enlargement in a patient with IgG4-related disease.","authors":"Ryoshin Mizuno, Yuhei Ito, Rufuto Ando, Asako Mitsui, Naohiro Sugitani, Yoshiyuki Arinuma, Mariko Noda, Eiji Ishikawa, Ayako Nakajima","doi":"10.1093/mrcr/rxaf057","DOIUrl":"10.1093/mrcr/rxaf057","url":null,"abstract":"<p><p>IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory condition characterised by distinctive histopathological features and diverse clinical presentations. Although it is frequently associated with bilateral swelling of the lacrimal and submandibular glands, it has occasionally been reported to affect adnexal tissues, such as infraorbital nerve enlargement (IONE), which has not yet been well recognised. A 54-year-old woman presented with purpura. Laboratory investigations revealed eosinophilia, elevated serum creatinine, hypergammaglobulinemia with markedly elevated serum IgG4 levels (2 924 mg/dl), and hypocomplementemia, along with increased levels of β2-microglobulin and N-acetyl-β-D-glucosaminidase in her urine. Computed tomography revealed the presence of bony tunnel-like structures bilaterally in the infraorbital region, measuring up to 12 mm in diameter. Renal biopsy showed bird's-eye pattern fibrosis and marked infiltration of IgG4-positive plasma cells within the tubulointerstitium. Although an infraorbital nerve biopsy was not performed, the patient was diagnosed with IgG4-RD with tubulointerstitial nephritis, clinically complicated by IONE. Treatment with high-dose glucocorticoids and rituximab led to improvement in the renal manifestations; however, IONE remained unchanged even after six months of treatment. This case highlights an important aspect of IONE in IgG4-RD and offers insights into its clinical diagnosis and management.</p>","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":"145088580","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":"Peripheral neuropathy in systemic sclerosis with proximal nerve involvement: Diagnostic challenges and response to corticosteroid therapy.","authors":"Takehiro Suzuki, Takahiro Kawasaki, Goichi Beck, Noyuri Takenaka, Kotaro Ogawa, Eri Itotagawa, Kazuki Matsukawa, Michiko Ohashi, Takeshi Kaneko, Eri Oguro-Igashira, Yumiko Mizuno, Mayuko Izumi, Kohei Tsujimoto, Yasutaka Okita, Takayoshi Morita, Akane Watanabe, Yasuhiro Kato, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Atsushi Kumanogoh","doi":"10.1093/mrcr/rxaf005","DOIUrl":"10.1093/mrcr/rxaf005","url":null,"abstract":"<p><p>Peripheral neuropathy is a complication in systemic sclerosis (SSc) that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with SSc that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests. A 44-year-old Japanese man diagnosed with SSc presented with gradually worsening paresthesia and gait disorder. A nerve conduction study and histological examination of a biopsy sample from the left sural nerve, where the nerve conduction study indicated abnormalities, revealed findings consistent with peripheral neuropathy associated with SSc. The results of blood tests or cerebrospinal fluid analysis did not indicate significant inflammatory findings, aside from a slight elevation in protein levels in the cerebrospinal fluid. Similarly, the histological analysis of the nerve biopsy showed no signs of inflammation. T2-weighted magnetic resonance imaging of the lumbar region revealed hyperintensity at the nerve roots, suggesting inflammation at the nerve roots. Based on these findings, we initiated corticosteroid therapy, which led to an improvement in both the patient's symptoms and results in the nerve conduction study. This case provides new insights into the pathogenesis of peripheral neuropathy associated with SSc and highlights that the potential benefits of immunosuppressive therapy should not be overlooked, even in the absence of conventional inflammatory signs.</p>","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":"143070464","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 irAE myositis with positive antistriational antibodies after anti-PD-L1 antibody administration: A case report.","authors":"Hironori Ando, Ken Takao, Makie Honda, Saki Kubota, Tokuyuki Hirose, Takehiro Kato, Masami Mizuno, Takuo Hirota, Yukio Horikawa, Daisuke Yabe","doi":"10.1093/mrcr/rxaf025","DOIUrl":"10.1093/mrcr/rxaf025","url":null,"abstract":"<p><p>Immune checkpoint inhibitors are widely used in clinical practice, necessitating appropriate management of immune-related adverse events (irAEs). Although severe neurologic irAEs are less common, they often lead to poor outcomes, requiring early detection and prompt intervention. An 88-year-old woman with invasive urothelial carcinoma received six cycles of gemcitabine plus carboplatin followed by avelumab, an anti-programmed cell death ligand 1 antibody, as maintenance therapy. One week later, she developed progressive limb weakness and was diagnosed with irAE myositis based on elevated creatine kinase (CK) levels and imaging findings. Early treatment with methylprednisolone pulse therapy, followed by prednisolone [1 mg/kg body weight (BW)], led to rapid improvement, and no relapse occurred after prednisolone completion at 4 months. IrAE myositis has clinical, pathological, and immunological features that differ from those of known inflammatory muscle diseases. In this case, the time to onset and the presence of antistriational antibodies were consistent with previous reports focusing on anti-programmed cell death 1 antibodies, whereas ocular symptoms, myocarditis, and myasthenia gravis, which are considered characteristic of irAE myositis, were not observed. Given the expected increase in high-grade neurological irAEs, accumulating case reports is essential to better understand the differences in clinical presentation and prognosis, which may vary depending on drug-specific effects and autoantibody profiles. Furthermore, this case suggests that some patients with irAE myositis may successfully taper or discontinue prednisolone earlier than traditionally expected.</p>","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":"144188740","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":"Successful treatment by systemic corticosteroids and intravenous cyclophosphamide in acquired pure red cell aplasia associated with systemic lupus erythematosus.","authors":"Takafumi Tsushima, Masashi Fukuta, Natsumi Yoda, Chiharu Kimeda, Kazusuke Tanaka, Kosuke Matsuo, Yasuhito Hatanaka, Rena Matsumoto, Sonoko Shimoji, Yoshikazu Utsu, Shin-Ichi Masuda, Nobuyuki Aotsuka","doi":"10.1093/mrcr/rxaf024","DOIUrl":"10.1093/mrcr/rxaf024","url":null,"abstract":"<p><p>Commonly, acquired pure red cell aplasia (PRCA) can be associated with an underlying autoimmune disease. Reports of PRCA associated with systemic lupus erythematosus (SLE) are rare, and no treatment strategies have been documented. We report a case of PRCA associated with SLE that responded to intravenous cyclophosphamide (IVCY) and systemic corticosteroids. A 62-year-old Japanese female was diagnosed with PRCA and SLE. At the time of the initial visit, the patient simultaneously presented with severe proteinuria, massive pleural effusion, and interstitial changes. Notably, cyclosporine and corticosteroids did not improve PRCA and SLE status of the patient. After IVCY and corticosteroid administration, the patient's reticulocyte count and anaemia improved. Various other symptoms associated with SLE also improved. Cyclophosphamide is typically administered in PRCA in small, continuous oral doses. However, in this case, we did not need to initiate this continuous, low-dose treatment after IVCY. Overall, this study highlights therapeutic strategies involving IVCY in treating PRCA associated with SLE.</p>","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":"144145357","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":"Macrophage activation syndrome with hypoplastic marrow and orbital myositis as a unique initial presentation of systemic lupus erythematosus: A case-based review.","authors":"Kaustav Bhowmick, Srijana Pradhan, Uddalok Das, Arghya Chattopadhyay, Pasang Lhamu Sherpa","doi":"10.1093/mrcr/rxaf028","DOIUrl":"10.1093/mrcr/rxaf028","url":null,"abstract":"<p><p>Macrophage activation syndrome (MAS) with hypoplastic marrow is a rare but life-threatening presenting manifestation of systemic lupus erythematosus. Lupus orbitopathy is also very rarely reported in the literature. We hereby report for the first time a 19-year-old girl who had a unique combination of MAS, with hypoplastic marrow and orbitopathy as a presenting feature of lupus. We discussed in detail our patient's demographic characteristics, clinical features, treatment, and outcome. Our patient responded well to high-dose glucocorticoids along with 6 monthly doses of intravenous cyclophosphamide as per the modified National Institute of Health protocol followed by tacrolimus as maintenance treatment. Her prednisolone dose could be tapered to 7.5 mg daily after 8 months of treatment. We made a search on PubMed and Scopus for a literature review. We obtained 15 cases of MAS as a presenting feature in lupus, of which four had associated hypoplastic marrow. Males and juvenile age groups were equally affected with MAS as a presenting feature of lupus. Most of the patients responded to high-dose glucocorticoids. Only one patient succumbed to MAS. We also reviewed 14 cases of lupus orbitopathy with their clinical, and imaging characteristics, treatment, and outcome. Females predominated in these cases with the mean age being 43.6 years (SD ± 16.9 years). Treatment with glucocorticoids and immunosuppressive agents lead to complete resolution in most patients. The diagnosis of MAS with orbitopathy as a presenting feature of lupus in a 19-year-old girl poses a diagnostic challenge and requires the prompt exclusion of the common mimickers before initiation of aggressive immunosuppression.</p>","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":"144164402","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}