Modern Rheumatology Case Reports最新文献

{"title":"Development of microscopic polyangiitis following idiopathic pleuroparenchymal l fibroelastosis: A case report.","authors":"Mayuko Fujisaki, Tomoaki Higuchi, Naoko Konda, Shinya Hirahara, Kotaro Watanabe, Risa Yamada, Ryo Motoyama, Rei Yamaguchi, Yasuhiro Katsumata, Yasushi Kawaguchi, Masayoshi Harigai","doi":"10.1093/mrcr/rxad035","DOIUrl":"10.1093/mrcr/rxad035","url":null,"abstract":"<p><p>Idiopathic pleuroparenchymal fibroelastosis (PPFE) is a rare type of idiopathic interstitial pneumonia, which is characterised by pleural fibrosis and subjacent parenchymal fibroelastosis of the upper lobes. Herein, we present a case of microscopic polyangiitis (MPA) following PPFE. The patient had abnormal shadows on chest radiographs 15 years before the onset of MPA, and the patient was diagnosed with PPFE. Four years after the PPFE diagnosis, the patient was diagnosed with MPA based on persistent fever, purpura, mononeuritis multiplex, myeloperoxidase-antineutrophil cytoplasmic antibody positivity, and pathological findings of peritubular capillaritis on kidney biopsy. The patient was treated with glucocorticoids, including methylprednisolone pulse therapy and rituximab, followed by maintenance therapy with rituximab. One year after treatment, the PPFE had not worsened. PPFE occasionally occurs secondary to connective tissue disease, including MPA; however, to the best of our knowledge, this is the first report of PPFE preceding MPA. Our case suggests that PPFE, as other interstitial lung diseases, may be associated with MPA and precede the onset of MPA. The accumulation of more cases is needed to clarify the characteristics of MPA-associated PPFE.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"141-144"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9976963","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":"Transitions in vascular ultrasonography findings of temporal arteritis in a GCA case with progressive temporal headache and visual impairment.","authors":"Toshio Kawamoto, Michihiro Ogasawara, Go Murayama, Yuko Matsuki-Muramoto, Eri Hayashi, Mariko Harada, Makio Kusaoi, Masakazu Matsushita, Ken Yamaji, Naoto Tamura","doi":"10.1093/mrcr/rxad046","DOIUrl":"10.1093/mrcr/rxad046","url":null,"abstract":"<p><p>The European League Against Rheumatism and the American College of Rheumatology have stated that the halo sign on vascular ultrasonography (v-US) is relevant in diagnosing giant cell arteritis (GCA) and is equivalent to temporal artery biopsy. However, there are only a few reports about transitions in v-US findings after glucocorticoid (GC) therapy. We report the transitions in the v-US findings in a case of GCA after GC therapy. The patient had rapidly progressive symptoms, and there were concerns about blindness. After GC therapy, we first observed improvement in headache and visual impairment symptoms within 1 week, followed by rapid improvement in laboratory findings within 2 weeks. Subsequently, there were improvements in v-US findings after more than 2 months. In conclusion, these findings showed a dissociation between improvements in clinical symptoms and v-US findings of the temporal artery. Additionally, this case suggests that regular examination of v-US findings is useful in evaluating GCA with evident vascular wall thickness before GC therapy.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"112-116"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9972804","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":"Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report.","authors":"Yuji Miyoshi, Takayasu Kise, Kaoru Morita, Haruka Okada, Ken-Ichi Imadome, Naomi Tsuchida, Ayaka Maeda, Yuri Uchiyama, Yohei Kirino, Naomichi Matsumoto, Naoto Yokogawa","doi":"10.1093/mrcr/rxad041","DOIUrl":"10.1093/mrcr/rxad041","url":null,"abstract":"<p><p>We herein describe the case of a 52-year-old male patient who presented with fever, arthritis, and neutrophilic dermatosis in 2013 and subsequently experienced macrophage activation syndrome treated with high-dose glucocorticoid therapy. Due to the persistent symptoms refractory to several immunomodulatory and immunosuppressive (IS) drug therapies with dapsone, methotrexate, tacrolimus, infliximab (IFX), and tocilizumab (TCZ), he received prednisolone (PSL) ≥20 mg/day to suppress disease activity. In 2017, Epstein-Barr virus (EBV)-associated haemophagocytic lymphohistiocytosis (HLH) was diagnosed and initially treated with immunochemotherapy consisting of dexamethasone, cyclosporine (CyA), and etoposide (ET). Because of the suboptimal response to the initial therapy, cytoreduction therapy consisting of CHOP (combination chemotherapy consisting of cyclophosphamide, doxorubicin, vincristine, and PSL) was administered. This regimen improved the EBV-associated HLH. Later, the patient's condition stabilised with methylprednisolone 1 mg/day and CyA 100 mg/day. In 2022, ubiquitylation-initiating E1 enzyme (UBA1) variant analysis using Sanger sequencing of peripheral blood leukocytes detected a previously reported somatic variant (NM_003334.3: c.118-1G>C), confirming the diagnosis of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The clinical course in the present case suggested the possibility that CHOP could be a potential treatment option for VEXAS syndrome, in the pathophysiology of which the expansion of clones with UBA1 variant seems to play a pivotal role.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"199-204"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10319607","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":"Myasthenia gravis with inclusion body myositis: A case report.","authors":"Takuya Kakutani, Masaki Yoshizawa","doi":"10.1093/mrcr/rxad026","DOIUrl":"10.1093/mrcr/rxad026","url":null,"abstract":"<p><p>We present the case of a 75-year-old man diagnosed with myasthenia gravis (MG) based on lower leg weakness and ptosis for the past 2 months before admission to our hospital. The patient was anti-acetylcholine receptor antibody-positive at admission. He was treated with pyridostigmine bromide and prednisolone, which improved the ptosis, but the lower leg muscle weakness remained. An additional lower leg magnetic resonance imaging examination suggested myositis. Inclusion body myositis (IBM) was diagnosed after a subsequent muscle biopsy. Although MG is often associated with inflammatory myopathy, IBM is rare. There is no effective treatment for IBM, but various treatment possibilities have recently been proposed. This case emphasises that myositis complications, including IBM, should be considered when elevated creatine kinase levels are observed and conventional treatments do not address chronic muscle weakness.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"83-85"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9544988","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":"Long-term patency of aorto-biiliac endoprosthesis for critical lower limb ischaemia in Takayasu arteritis after complicated angioplasty with a drug-coated balloon: Effect of dual antiplatelet therapy combined with tocilizumab.","authors":"Thatiany Paslar Leal, Melissa Pereira Lopes Vieira Pinto, Gabriela Hasselmann, Bruna Cremonezi Lammoglia, Luana de Aguiar Trevise, Nilton Salles Rosa Neto","doi":"10.1093/mrcr/rxad030","DOIUrl":"10.1093/mrcr/rxad030","url":null,"abstract":"<p><p>Takayasu arteritis is a chronic granulomatous vasculitis of unknown aetiology affecting the aorta and its major branches. Critical limb ischaemia may occur and eventually require surgical intervention. Surgical outcomes are influenced by disease activity, age, and comorbidities. We report a 43-year-old woman with Takayasu arteritis and stenosis of the left common iliac artery and occlusion of the left external iliac artery with limiting vascular claudication, who underwent angioplasty of the iliac artery with drug-eluting stent while being treated with infliximab. The artery ruptured a week later but was contained by the ilio-psoas muscle. She required subsequent stent placement to correct the lesion. Treatment comprised aspirin and clopidogrel, and the biological was switched to monthly intravenous tocilizumab. During an 8-year follow-up, serial imaging examinations showed a patent aorto-biiliac endoprosthesis, without evidence of thrombosis or restenosis. Clinically, the patient denies vascular claudication and pulses remain palpable in the left lower limb. This case highlights the risks inherent to these procedures in patients with large artery vasculitis and reinforces that the effectiveness of endovascular intervention can be increased by detailed preoperative evaluation, associated with a drug strategy including immunomodulatory and antiplatelet therapy as directed by the multispecialty team. Periodic imaging examinations are required because of the reported high rate of restenosis.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"101-106"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9588447","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":"Extensive ischaemic colitis-like colonic lesions in eosinophilic granulomatosis with polyangiitis.","authors":"Yoshitaka Ueda, Kota Shimada","doi":"10.1093/mrcr/rxad029","DOIUrl":"10.1093/mrcr/rxad029","url":null,"abstract":"<p><p>Eosinophilic granulomatosis with polyangiitis is a rare, immune-mediated, multisystemic disorder belonging to the group of antineutrophil cytoplasmic antibody-associated vasculitides. Gastrointestinal symptoms are relatively common in patients with eosinophilic granulomatosis with polyangiitis, reportedly occurring in ∼22.3% of cases. Vasculitic necrotising lesions normally occur in the intestinal tract, and in the present case, the colonic lesions were remarkably severe and extensive. Pulse steroid therapy combined with cyclophosphamide improved the patient's condition without any serious complications, such as intestinal perforation.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"150-152"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9898502","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 retroperitoneal fibrosis and hypophysitis with antecedent respiratory disease followed by spontaneous remission and recurrence.","authors":"Masato Sakai, Yuta Ohno, Nana Kozuki, Yuki Kawasaki, Michiko Yoshida, Hiroyuki Ikeda, Junji Konishi, Toshiki Maeda, Motoki Sugano, Satoshi Kawakami, Isao Ito, Aina Yamaguchi, Hironobu Naiki, Kenji Notohara, Takashi Akamizu, Mitsuhiro Kawano, Haruyoshi Yoshida","doi":"10.1093/mrcr/rxad040","DOIUrl":"10.1093/mrcr/rxad040","url":null,"abstract":"<p><p>A 65-year-old man presented with apparent bronchopneumonia. After treatment with antibiotics, he showed eosinophilia. Computed tomography (CT) imaging revealed bilateral consolidation, ground-glass opacities with nodular consolidations, and pleural effusion. Lung biopsy showed organising pneumonia with lymphoplasmacytic infiltration in the alveolar septa and in the thickened pleura and interlobular septa. All pulmonary abnormalities spontaneously went into remission within 12 months. At 73 years old, a follow-up CT scan revealed small nodules in both lungs and the review of the head CT scan showed thickening of the pituitary stalk in studying prolonged headache. Two years later, he visited the hospital complaining of severe oedema on the lower extremities with high serum immunoglobulin (Ig)G4 186 mg/dl. A whole-body CT scan showed retroperitoneal mass surrounding aortic bifurcation and compressing inferior vena cava, pituitary stalk thickening and gland swelling, and enlarged pulmonary nodules. Anterior pituitary stimulation tests showed central hypothyroidism, central hypogonadism, and adult growth hormone deficiency with partial primary hypoadrenocorticism. Retroperitoneal mass biopsy showed storiform fibrosis and obliterative phlebitis with marked lymphoplasmacytic infiltration with moderate IgG4-positivity. Immunostaining of the former lung specimen revealed dense interstitial infiltration of IgG4-positive cells. These findings indicated metachronous development of IgG4-related disease in lung, hypophysis, and retroperitoneum, according to the recent comprehensive diagnostic criteria of IgG4-related disease. Glucocorticoid therapy ameliorated oedema, on the other hand, unmasked partial diabetes insipidus at the initial dose of the treatment. Hypothyroidism and retroperitoneal mass regressed at 6 months of the treatment. This case warns us that long-term follow-up from prodromal to remission is necessary for the treatment of IgG4-related disease.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"163-171"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10136076","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":"Werner syndrome associated with poorly differentiated thyroid carcinoma and systemic sclerosis-like skin manifestations: A case report.","authors":"Eri Sugawara, Yuhei Shibata, Kazuaki Katsumata","doi":"10.1093/mrcr/rxad039","DOIUrl":"10.1093/mrcr/rxad039","url":null,"abstract":"<p><p>Werner syndrome (WS) is an autosomal recessive disorder characterised by premature ageing. WS patients often experience scleroderma-like manifestation including skin sclerosis and skin ulcer, making it difficult to differentiate WS from systemic sclerosis (SSc). Moreover, there is a high incidence of malignancy and arteriosclerosis-related disease in WS patients. We herein describe a 36-year-old woman with WS who had poorly differentiated thyroid carcinoma, one of the rare phenotypes of thyroid tumour. This case suggested the importance to distinguish WS from SSc and early diagnosis of malignancy.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"95-100"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9758735","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":"Angioleiomyoma mimicking a swollen bursa on first metatarsophalangeal joint accompanying with hallux valgus deformity.","authors":"Kotaro Matsuda, Makoto Hirao, Takaaki Noguchi, Gensuke Okamura, Yoshihiko Hoshida, Yuki Etani, Kosuke Ebina, Seiji Okada, Koji Hiraoka, Jun Hashimoto","doi":"10.1093/mrcr/rxad047","DOIUrl":"10.1093/mrcr/rxad047","url":null,"abstract":"<p><p>We present a case of a patient who underwent a modified scarf osteotomy and tumour excision based on a preoperative diagnosis of hallux valgus deformity and accompanying bursitis. Subsequent histopathological examination revealed that the tumour was an angioleiomyoma. While tumours around the first metatarsophalangeal (MTP) joint are typically associated with gouty nodules, infections, or swollen bursa (bursitis) in patients with hallux valgus deformity, the occurrence of soft tissue tumours in this area is rare. Moreover, angioleiomyoma is an even rarer form of soft tissue tumour and is seldom suspected prior to resection. To our knowledge, there have been no reports of angioleiomyoma arising in the first MTP joint. However, it is important to consider the possibility of an atypical tumour in cases where soft tissue masses are present, even in patients with hallux valgus deformity, and to perform at least imaging tests such as ultrasound and magnetic resonance imaging before surgery. This prospect should always be kept in mind.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"210-214"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9994960","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 with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.","authors":"Kerem Parlar, Eda Tahir Turanli, Eda Nuhoglu Kantarci, Aysa Hacioglu, Asli Kirectepe Aydin, Ali Yagiz Ayla, Umut Voyvoda, Huri Ozdogan, Serdal Ugurlu","doi":"10.1093/mrcr/rxad045","DOIUrl":"10.1093/mrcr/rxad045","url":null,"abstract":"<p><p>Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2. A male patient, currently 29 years old, was initially diagnosed with FMF and developed livedo reticularis and nodular dermal lesions compatible with cutaneous polyarteritis nodosa (PAN) a year after diagnosis. His family history revealed a brother 2 years older than himself who was diagnosed with PAN and died at age 22 because of gut perforation secondary to acute mesenteric ischaemia. ADA2 gene mutation analysis on chromosome 22q11.1 was positive, and the patient responded to colchicine and infliximab.</p>","PeriodicalId":18677,"journal":{"name":"Modern Rheumatology Case Reports","volume":" ","pages":"121-124"},"PeriodicalIF":0.0,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9994962","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}