Modern rheumatology case reports最新文献

{"title":"Symptomatic Pachydermodactyly: A Case Report.","authors":"Ayaka Ito, Hirotaka Tsuno, Yusuke Yano, Shinichi Nogi, Yoshihiko Tabira, Hanako Ohmatsu, Shogo Honda, Ayako Horita, Ikuo Saito, Toshihiro Matsui","doi":"10.1093/mrcr/rxae064","DOIUrl":"10.1093/mrcr/rxae064","url":null,"abstract":"<p><p>Pachydermodactyly, an uncommon variant of digital fibromatosis, predominantly affects young men and results in fibrous swelling on the sides of the proximal interphalangeal joints. It is generally considered benign and asymptomatic, requiring only regular follow-up. Nevertheless, the absence of established diagnostic criteria has led to misdiagnoses, prompting the administration of unnecessary medications. In this report, we present a 14-year-old Japanese male with symptomatic pachydermodactyly, necessitating careful differentiation from juvenile idiopathic arthritis (JIA) due to the presence of morning stiffness. Despite exhibiting typical pachydermodactyly features, the patient's age and symptoms suggested rheumatoid factor-negative polyarticular JIA. However, the lack of inflammatory findings precluded a JIA diagnosis. Following confirmation of the absence of uveitis and progression of bone destruction, the morning stiffness spontaneously resolved without active treatment. However, the patient underwent surgery for aesthetic reasons to alleviate the persistent swelling. Our case highlights the nuances of symptomatic pachydermodactyly, with a literature review revealing similarities between symptomatic and asymptomatic cases. This challenges the suitability of asymptomatic status as a definitive diagnostic criterion. Our findings contribute to the ongoing efforts in establishing diagnostic criteria for pachydermodactyly, aiming to reduce misdiagnoses and unnecessary medications in patients.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142524007","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":"Mid-term outcomes of distal tibial oblique osteotomy in patients with rheumatoid arthritis: a report of three cases.","authors":"Takaaki Noguchi, Makoto Hirao, Kosuke Ebina, Yuki Etani, Gensuke Okamura, Manabu Sakata, Taihei Miura, Seiji Okada, Jun Hashimoto","doi":"10.1093/mrcr/rxae068","DOIUrl":"https://doi.org/10.1093/mrcr/rxae068","url":null,"abstract":"<p><p>Although distal tibial oblique osteotomy (DTOO) has usually been indicated for non-inflammatory diseases such as osteoarthritis, we encountered three patients with rheumatoid arthritis (RA) who underwent DTOO. We evaluated radiographic parameters and clinical scores, including self-reported scores for the foot and ankle (SAFE-Q) and the Japanese Society for Surgery of the Foot (JSSF) ankle/hindfoot scale. In all three cases, radiographic improvements were achieved along with improvements in SAFE-Q and JSSF scores after mid-term follow-up. Supramalleolar osteotomy including DTOO could be indicated even for inflammatory diseases such as RA, if erosive changes are not evident in the ankle joint.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515546","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":"Granulomatosis with polyangiitis with lacrimal gland enlargement and pancreatic swelling: case report and literature review.","authors":"Tetsuya Kawajiri, Shigeru Iwata, Katsunori Tanaka, Takeru Sonoda, Mizuki Nishikawa, Ryuta Iwamoto, Yuichi Takahashi, Fumiyoshi Kojima, Takao Fujii","doi":"10.1093/mrcr/rxae066","DOIUrl":"https://doi.org/10.1093/mrcr/rxae066","url":null,"abstract":"<p><p>A 62-year-old man had bilateral eyelid swelling for 4 months. Two months before admission, he developed fatigue and lost 5 kg of bodyweight. Further examination revealed elevated serum C-reactive protein, normal angiotensin-converting enzyme, elevated proteinase-3 antineutrophil cytoplasmic antibody (PR3-ANCA), and normal IgG4 concentration. Chest X-ray and computed tomography showed no enlarged hilar lymph nodes, but positron emission tomography-computed tomography showed fluorodeoxyglucose accumulation in both lacrimal glands, in lung nodules, and in the pancreas. Tissue biopsies of the lacrimal glands and pulmonary nodules showed granuloma with giant cells, but no IgG4-positive cells or fibrosis. Pancreatic tissue showed no findings of autoimmune pancreatitis. In the 2022 ACR/EULAR classification criteria for granulomatosis with polyangiitis, the total score was 10 points. Final comprehensive diagnosis was granulomatosis with polyangiitis, based on the negative results of differential diseases, such as IgG4-related diseases and sarcoidosis. Prednisolone 60 mg/day was started on day 8, and rituximab 500 mg/body/week on day 12. After beginning treatment, general malaise and lacrimal gland enlargement were resolved, PR3-ANCA and C-reactive protein became negative, and the nodular shadow in the lungs disappeared. This is the first report of granulomatosis with polyangiitis presenting both lacrimal gland and pancreatic lesions.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515545","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":"Anaphylaxis and prolonged allergic reactions caused by intra-articular injection of diclofenac etalhyaluronate in knee osteoarthritis: A case report.","authors":"Tomohito Takeshige, Ryo Koyama, Yuta Hotchi, Kenji Kawai, Makiko Kohmaru, Takashi Akimoto, Junko Watanabe, Toshifumi Yae, Kenji Kido, Manabu Sugita, Kazuhisa Takahashi","doi":"10.1093/mrcr/rxae067","DOIUrl":"https://doi.org/10.1093/mrcr/rxae067","url":null,"abstract":"<p><p>Osteoarthritis (OA) is a common condition. The treatment of knee OA aims to improve the quality of life and clinical symptoms, mainly knee pain. To develop a new treatment option, diclofenac etalhyaluronate (DF-HA;ONO-5704/SI-613; trade name: JOYCLU) was developed. Its anti-inflammatory and pain-relieving effects have been demonstrated. Conversely, adverse events have also been reported. Here, we report the case of a 71-year-old female who presented with anaphylaxis and prolonged allergic reactions after an intra-articular injection of JOYCLU. A basophil activation test (BAT) was performed to determine the cause of the anaphylaxis. BAT showed no positive findings. As the incidence of knee OA increases, the number of cases of JOYCLU use is expected to grow; therefore, careful administration is required. In this case, the cause was unknown by BAT. Thus, further development of appropriate testing methods is necessary. Intra-articular allergic reactions in knee OA may be modified and worsened besides normal allergic reactions; therefore, caution is required.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515544","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 central nervous system lymphomatoid granulomatosis in an older adult patient with systematic lupus erythematosus: A case report.","authors":"Takayuki Kambe, Makoto Yamaguchi, Takayuki Katsuno, Hirokazu Sugiyama, Keisuke Kamiya, Kentaro Imai, Hiroshi Kinashi, Shogo Banno, Yasuhiko Ito, Takuji Ishimoto","doi":"10.1093/mrcr/rxae062","DOIUrl":"https://doi.org/10.1093/mrcr/rxae062","url":null,"abstract":"<p><p>Lymphomatoid granulomatosis (LYG) is a rare, T-cell-rich Epstein-Barr virus (EBV)-positive B-cell lymphoproliferative systemic disease. Only a few cases of LYG have been described in patients with autoimmune disorders, with only one case described in a patient with systemic lupus erythematosus (SLE). However, no cases of isolated central nervous system (CNS)-LYG have been reported in patients with autoimmune diseases. Since isolated CNS involvement is rare, its clinicopathological features remain incompletely understood. Herein, we report about an 85-year-old Japanese woman who was diagnosed with SLE 26 years ago and was stable and maintained on prednisone (5 mg/day) for 20 years. Twenty-six days before admission, she developed cognitive dysfunction. Brain magnetic resonance imaging (MRI) revealed multiple nodular lesions with ring-like enhancements seen on gadolinium-enhanced T1-weighted imaging. A brain biopsy was performed on the right frontal lobe lesion. Pathological findings revealed T-cell infiltration surrounding the blood vessels with fibrin deposition, a few multinucleated cells, and large atypical cells with prominent nucleoli. Large atypical cells positive for CD20 and EBV-encoded RNA (EBER) were seen at a density of >100 cells per high-power field. Based on laboratory testing, imaging, and pathology findings, the patient was diagnosed with grade III LYG. Treatment with tirabrutinib (480 mg once daily) was started. The patient achieved clinical response to treatment, as evidenced by improved mental status. In patients with SLE who present with multiple nodular or ring-like lesions on brain MRI, brain biopsy with histological diagnosis is crucial for the exclusion of CNS-LYG.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142407345","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":"https://doi.org/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 levels for age and gender (confirmed on 2 occasions 12 weeks apart outside pregnancy). She had a novel variant in the PROS1 gene (NM_000313.4:c.1513G>A; p.Gly505Ser) which is associated with heterozygous Protein S (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":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-04","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":"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":"https://doi.org/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 to 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 were resolved following corticosteroid replacement therapy together with generalized symptoms. 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":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-03","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":"Bilateral atypical femur fracture in a patient with breast cancer taking zoledronic acid and denosumab: a case report.","authors":"Kazuhiko Hashimoto, Tomohiko Ito, Yuto Yamagishi, Koji Goto","doi":"10.1093/mrcr/rxae059","DOIUrl":"https://doi.org/10.1093/mrcr/rxae059","url":null,"abstract":"<p><p>A 54-year-old woman developed stage IV breast cancer 8 years prior. Chemotherapy was administered, and she was started on zoledronic acid treatment for her bone metastases. Her chemotherapy regimen was then switched, owing to disease progression. Fifty-seven months after starting treatment with zoledronic acid, the patient suffered an atypical femoral fracture of her right femur, for which she underwent surgery. Twenty months later, she developed another atypical femoral fracture in her left femur and underwent intramedullary nail fixation. Zoledronic acid and denosumab use in patients with metastatic bone tumors caused by breast cancer should be done cautiously, considering atypical femoral fracture risk.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368095","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":"Prolonged eosinophilia caused by Strongyloidiasis in a patient with rheumatoid arthritis treated with Upadacitinib.","authors":"Marko Barešić, Paula Kilić, Mirjana Balen Topić, Branimir Anić","doi":"10.1093/mrcr/rxae061","DOIUrl":"https://doi.org/10.1093/mrcr/rxae061","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a systemic disease, which is caused by dysregulation of the immune system in the susceptible persons, making them immunocompromised and prone to infections during the course of their disease. The majority of RA patients are being treated with immunosuppressive drugs which render them even more immunocompromised. We present a Caucasian patient living in South-eastern Europe who developed prolonged eosinophilia during the treatment of RA with upadacitinib. After a comprehensive work-up she was diagnosed with Strongyloidiasis although living in non-endemic region of the world. We emphasize the importance of regular follow-up of immunocompromised patients and raise awareness of not only typical but also atypical infections which can occur during the course of the disease.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335391","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 of Anti-melanoma differentiation-associated gene 5 (MDA-5) antibody-positive dermatomyositis with rapidly progressive interstitial lung disease complicated by bilateral breast cancer following the additional tofacitinib: A case report.","authors":"Takashi Yamane, Midori Kitayama","doi":"10.1093/mrcr/rxae060","DOIUrl":"https://doi.org/10.1093/mrcr/rxae060","url":null,"abstract":"<p><p>Anti-melanoma differentiation-associated gene 5 (MDA-5) antibody-positive dermatomyositis (MDA5-DM) is known to cause rapidly progressive interstitial lung disease (RP-ILD). Cancer complications in MDA5-DM are less frequently reported compared to other forms of DM, though they do occur. The treatment strategy for DM with aspects of paraneoplastic syndrome is usually to treat the cancer first, if possible. However, surgery is difficult in the setting of respiratory failure and carries the risk of acute exacerbation of interstitial lung disease, as does chemotherapy and radiotherapy. The prognosis of MDA5-DM with RP-ILD has improved with initial immunosuppressive combination therapy, but certain cases remain refractory to treatment. Recently, the efficacy of janus kinase (JAK) inhibitors in refractory MDA5-DM cases has been reported. However, immunosuppressive therapies, including JAK inhibitors, may have negative effect on cancer progression. Here, we report a 48-year-old woman suffering from MDA5-DM with RP-ILD complicated by bilateral breast cancer. Due to respiratory failure, radical breast cancer surgery and chemotherapy could not be performed, so endocrine therapy and combined immunosuppressive therapy were first administered. However, the patient's condition was refractory to this initial treatment. Therefore, tofacitinib in combination with plasma exchange therapy was initiated, leading to an improvement in ILD, and bilateral mastectomy could be performed. One year later, MDA-5 antibody titers became negative, and glucocorticoid was successfully discontinued after two years. To date, three years have passed without recurrence of either MDA5-DM or breast cancer. To our knowledge, this is the first report of MDA5-DM complicated by breast cancer, as well as the first case of JAK inhibitor use for MDA5-DM with cancer. For curative treatment of MD5-DM with RP-ILD, if comorbid cancers are found, collaboration with oncologists to balance the efficacy and adverse events of MDA5-DM with RP-ILD therapy is essential in determining the appropriate type and timing of treatment, which could lead to a favorable outcome.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142335402","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}