A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis.
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ABSTRACT:
SUBMITTER: Kobayashi T
PROVIDER: S-EPMC9308377 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
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A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis.
Kobayashi Toshiyuki T Nakano Taiji T Ogata Hitoshi H Sato Noriko N Yamaide Fumiya F Yamashita Yoshiharu Y Chikaraishi Koji K Hino Moeko M Nishino Ichizo I Ichimura Yuki Y Okiyama Naoko N Hamada Hiromichi H
Rheumatology (Oxford, England) 20220501 6
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Project description:BackgroundClinical phenotypes and outcomes in juvenile dermatomyositis (JDM) have been defined by various myositis-specific autoantibodies (MSAs). One of the recently described MSAs associated with DM is targeted against the small ubiquitin-like modifier 1 activating enzyme (SAE). We report an anti-SAE autoantibody-positive JDM patient complicated with interstitial lung disease (ILD).Case presentationAn 8-year-8-month-old Japanese girl presented with bilateral eyelid edema and facial erythema. At 8 years 4 months, she had dry cough and papules with erythema on the dorsal side of the interphalangeal joints of both hands. Her facial erythema gradually worsened and did not improve with topical steroids. At the first visit to our department at 8 years 8 months of age, she had a typical heliotrope rash and Gottron's papules, with no fever or weight loss, and a chest computed tomography scan showed ground-glass opacity under visceral pleura. There was no clinical evidence of myositis, muscle weakness, myalgia, or muscle magnetic resonance imaging (MRI) findings. She had mild dry cough, without any signs of respiratory distress. Laboratory tests showed no elevated inflammatory markers. She had a normal serum creatine kinase level with a slightly elevated aldolase level, and serum anti-SAE autoantibody was detected by immunoprecipitation-western blotting. She was diagnosed with juvenile amyopathic DM complicated by ILD and received two courses of methylprednisolone pulse therapy followed by oral corticosteroid and cyclosporin A. We gradually reduced the corticosteroid dose as her skin rash improved after treatment initiation. There was no progression of muscle symptoms, dysphagia, or disease flare during a 24-month follow-up period.ConclusionsWe report a patient with anti-SAE autoantibody-positive JDM complicated by interstitial pneumonia. This patient had no progression of muscle symptoms and dysphagia during a 24-month follow-up period, which differs from previous reports in adult patients with MSAs. There have been no previous reports of pediatric patients with SAE presenting with ILD. However, ILD seen in this case was not rapidly progressive and did not require cytotoxic agents. To prevent overtreatment, appropriate treatment choices are required considering the type of ILD.
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Project description: Not available
| S-EPMC6821280 | biostudies-literature
Project description:Dermatomyositis is a well-known autoimmune disorder. On the other hand, juvenile amyopathic dermatomyositis (JADM) occurs rather rarely. Here, we report an unusual case in a 9-year-old Turkish boy showing a unilateral linear inflammatory skin lesion that was followed, after 16 months, by the appearance of bilateral disseminated features JADM.
| S-EPMC5527735 | biostudies-other
Project description:Calcinosis is a major cause of morbidity in JDM and has previously been linked to anti-NXP2 autoantibodies, younger age at disease onset and more persistent disease activity. This study aimed to investigate the clinical associations of anti-NXP2 autoantibodies in patients with JDM stratified by age at disease onset.A total of 285 patients with samples and clinical data were recruited via the UK Juvenile Dermatomyositis Cohort and Biomarker Study. The presence of anti-NXP2 was determined by both immunoprecipitation and ELISA. Logistic regression analysis was performed to assess the age-dependent relationship between anti-NXP2 and the development of calcinosis and disease activity measures.We identified anti-NXP2 autoantibodies in 56 patients (20%). While in all patients younger age at disease onset was associated with an increased risk of calcinosis and this relationship was nearly linear, anti-NXP2 autoantibodies substantially increased the risk of calcinosis across all ages (P = 0.025) and were detectable prior to calcinosis development. Children with anti-NXP2 autoantibodies had a greater degree of weakness (median lowest ever Childhood Myositis Assessment Score 29.6 vs 42) and were less likely to be in remission at 2 years post-diagnosis. No difference in disease activity was seen 4 years post-diagnosis.Children diagnosed at a young age have a high risk of calcinosis regardless of autoantibody status. However, the presence of anti-NXP2 autoantibodies substantially increases the risk of calcinosis across all ages and is associated with disease severity.
| S-EPMC4241891 | biostudies-other
Project description:This study investigates the prevalence of dyslipidemia and its association with disease activity in children with Juvenile Dermatomyositis (JDM). A retrospective chart review of 142 JDM patients who had fasting lipid profiles was conducted. Clinical, and laboratory indicators of disease activity at the time of lipid assessment were obtained. JDM patients displayed a high prevalence (72%) of abnormal or borderline fasting lipid profiles, particularly involving HDL and triglycerides. Treatment-naïve patients exhibited the most significant dyslipidemia, with significantly lower median HDL levels compared to those on medication (30 vs. 49 mg/dL, p < 0.0001). HDL levels inversely correlated with various disease activity measures, including disease activity score (DAS) total (r= -0.38, p < 0.001), DAS muscle weakness (r= -0.5, p < 0.001), DAS skin (r= -0.25, p = 0.003), neopterin (r= -0.41, p < 0.001), ESR (r= -0.25, p = 0.006), and vWF Ag (r= -0.21, p = 0.02). In conclusion, JDM patients have a high prevalence of dyslipidemia, especially low HDL and elevated triglycerides. The severity of dyslipidemia (low HDL) correlates with disease activity, with treatment-naïve patients demonstrating the lowest HDL levels. These findings suggest the importance of annual lipid profile monitoring in JDM patients, potentially followed by early interventions such as dietary adjustments and exercise programs.
| S-EPMC11532421 | biostudies-literature
Project description:AimsTo evaluate the relationship between expression of myxovirus-resistance protein A (MxA) protein on muscle biopsies by immunohistochemistry and disease activity in juvenile dermatomyositis (JDM) patients. Also, another aim was to investigate whether the expression of MxA is related with myositis-specific autoantibodies (MSA) status in JDM patients.Methods103 patients (median aged 6.3, interquartile range 0.5-15.9) enrolled in the Juvenile Dermatomyositis Cohort and Biomarker Study (JDCBS). Muscle biopsies were stained with MxA and scored. Clinical data at initial presentation were collected and autoantibodies were analysed. Multiple linear regression analysis was performed to estimate the association between MxA expression on muscle fibres and muscle disease activity, and MSA status.ResultsExpression of MxA protein on JDM samples was identified in 61.2%. There was a significant association between MxA scores and Childhood Myositis Assessment Scale (CMAS) (P = 0.002), and Manual Muscle Testing of Eight Muscles (MMT8) (P = 0.026). CMAS and MMT8 scores were significantly lower in the group of patients with strong MxA expression. MxA scores differed according to MSA subgroups (P = 0.002). Patients with positive nuclear matrix protein 2 autoantibodies had strong MxA expression, whereas anti-melanoma differentiation-associated gene 5 positive patients had no or weak MxA expression.ConclusionsThis study reveals the significant association between level of MxA expression on muscle fibres and clinical measures of muscular disease activity in JDM patients and MSA status. This confirms type I interferonopathies in muscle fibres of JDM patients which could help with improving treatment outcome in JDM patients and underscoring the distinct pathophysiological pathways in different MSA status.
| S-EPMC6563435 | biostudies-literature
Project description:Introduction and importancePericarditis is a common illness that can appear in a variety of clinical settings and has numerous causes. In developing nations where tuberculosis is still a serious public health issue, more than 50% of cases of pericarditis are related to tuberculosis.Case presentationThere was no history of TB, alcoholism, IV drug abuse, immunosuppressant, or corticosteroid use. On examination, she had a fever, tachycardia, pulsus paradoxus of 10 mmHg, hypotension, tachypnea, and a distended jugular vein. On auscultation, her heartbeats were muffled, and accompanied by a pericardial rub. Laboratory investigation showed low hematocrit and a high WBC count with lymphocyte predominance. ESR and CRP levels were elevated. Her chest X-ray revealed an enlargement of the cardiac silhouette. The ECG showed low voltage complexes. Echocardiography showed circumferential 30 mm × 25 mm pericardial effusion with fibrin strands in the visceral pericardium. An emergency pericardiocentesis was performed under the guidance of transthoracic echocardiography using sub-xiphoidal standards. Microbiologic analysis of the pericardial fluid confirmed tuberculosis. After successful pericardiocenthesis, the patient's condition improved massively. After three days of pericardiocentasis drainage, TB treatment was started and she was discharged for outpatient flow up.Clinical discussionTuberculous pericarditis is a serious tuberculosis (TB) complication that can be difficult to diagnose and often goes undetected, leading to late complications such as constrictive pericarditis and cardiac tamponade, which lead to increased mortality. This current case illustrates a young female patient presenting with isolated TB pericarditis complicated by cardiac tamponade. She had massive improvement following pericardiocentesis and anti-TB treatment.ConclusionIn Africa, tuberculous pericarditis should be considered as a differential diagnosis in any patient presenting with moderate to massive pericardial effusion. A high index of suspicion is required for the diagnosis of extrapulmonary TB pericarditis, especially in patients without known risk factors.
| S-EPMC9422315 | biostudies-literature
Project description: Not available
| S-EPMC10507688 | biostudies-literature
Project description:Juvenile dermatomyositis (JDM) is a rare autoimmune disease mainly characterized by muscle and skin involvement. Vasculopathy is considered central to the pathogenesis of the disease. The exact nature of vasculopathy is not yet understood but it is a complex process with both an inflammatory and a non-inflammatory, occlusive component. Impaired function of JDM vasculature includes immune complex deposition, altered expression of cell adhesion molecules predominantly inducing Th17 cell infiltration, and endothelial cell dysfunction. Development of vasculopathy is associated with the severe extra-muscular manifestations of JDM, such as gastrointestinal and cardiac manifestations, interstitial lung disease, ulcerative skin disease or development of calcinosis, and portends a poor prognosis. Correlation of histopathological findings, autoantibodies, and extensive diagnostic workup represent key elements to the early detection of vasculopathic features and early aggressive treatment. Monitoring of vasculopathy remains challenging due to the lack of non-invasive biomarkers. Current treatment approaches provide variable benefit, but better understanding of the essential pathogenic mechanisms should help lead to improved outcomes. Whilst acknowledging that evidence is limited, this review aims to describe the vasculopathy of JDM in the context of pathophysiology, clinical features, and treatment of disease.
| S-EPMC6189418 | biostudies-literature
Project description:ObjectivesThe paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs. There is a severe lack of evidence base for current treatment protocols in juvenile myositis. The rarity of these conditions means that multicentre collaboration is vital to facilitate studies of pathogenesis, treatment and disease outcomes. We have established a national registry and repository for childhood IIM, which aims to improve knowledge, facilitate research and clinical trials, and ultimately to improve outcomes for these patients.MethodsA UK-wide network of centres and research group was established to contribute to the study. Standardized patient assessment, data collection forms and sample protocols were agreed. The Biobank includes collection of peripheral blood mononuclear cells, serum, genomic DNA and biopsy material. An independent steering committee was established to oversee the use of data/samples. Centre training was provided for patient assessment, data collection and entry.ResultsTen years after inception, the study has recruited 285 children, of which 258 have JDM or juvenile PM; 86% of the cases have contributed the biological samples. Serial sampling linked directly to the clinical database makes this a highly valuable resource. The study has been a platform for 20 sub-studies and attracted considerable funding support. Assessment of children with myositis in contributing centres has changed through participation in this study.ConclusionsThis establishment of a multicentre registry and Biobank has facilitated research and contributed to progress in the management of a complex group of rare muscloskeletal conditions.
| S-EPMC2999955 | biostudies-literature