Search Results (46)

This case report examines the impact of robotic-assisted therapy (Lokomat) on functional recovery in a 28-year-old male patient with acute dermatomyositis (DM), an autoimmune inflammatory myopathy causing progressive muscle weakness and disability. The patient underwent 21 sessions of robotic therapy combined with physical therapy, and occupational therapy over seven weeks. Assessments were conducted at baseline, week 10, and week 21 using standardized measures for balance, muscle strength, and functionality. Results demonstrated significant improvements across all domains: balance scores progressed from severe impairment (4/56 Berg, 0/28 Tinetti) to near-normal function (55/56, 24/28, respectively); muscle strength increased from grade 1/5 to 4/5 (MMT-8) in all tested muscle groups; and functionality improved from moderate dependence (59/126 FIM) to complete independence (126/126). The trunk functionality scores showed remarkable recovery from 12/100 to 100/100 (TCT), indicating restored trunk control. Lokomat-assisted therapy combined with conventional rehabilitation effectively improves proximal weakness and postural instability in DM. Robotic therapy enhances motor learning via repetitive movements and reduces therapist workload. Though limited by a single-case design, this study offers preliminary evidence for robotic rehabilitation in DM, previously unexplored. Controlled studies are needed to standardize protocols and validate results in larger cohorts. Advanced technologies show promise for functional recovery in inflammatory myopathies. Full article

Interferon signature is one of the key pathogenic pathways in idiopathic inflammatory myopathies (IIMs), particularly in dermatomyositis (DM). The aim of this study was to analyze Siglec-1, an interferon-inducible receptor, on different monocyte subsets in IIM subtypes and investigate its association with disease activity measures. Siglec-1 expression was measured by 8-color flow cytometry in 62 IIM patients and 10 healthy controls (HC). Disease activity was assessed using the International Myositis Assessment and Clinical Studies (IMACS) core set measures. Active DM patients exhibited significantly higher Siglec-1 mean fluorescence intensity (MFI) compared to inactive subgroups and HCs in every monocyte subset. Intermediate monocytes displayed the highest Siglec-1 expression across all groups and the strongest associations between disease activity markers. Siglec-1 expression on monocyte subsets was strongly associated with global, extramuscular global, constitutional, cutaneous, muscular, and gastrointestinal activity measures, but not with pulmonary, skeletal, and cardiac activities in the DM population. The best indicator of DM global disease activity among the examined biomarkers was Siglec-1 MFI on intermediate monocytes. Siglec-1 on intermediate monocytes correlates strongly with organ-specific clinical and biochemical markers of disease activity; therefore, it is a candidate biomarker for monitoring IIM disease activity. Siglec-1 could be useful in patient selection for interferon-targeted treatments. Full article

Hydroxyurea (HU), a cornerstone treatment for myeloproliferative disorders, is associated with a wide range of cutaneous side effects, from xerosis and hyperpigmentation to more severe conditions like dermatomyositis-like eruptions (DM-LE) and nonmelanoma skin cancers (NMSC), particularly squamous cell carcinoma (SCC). In this review, we present a unique case of HU-induced DM-LE with histological evidence of keratinocyte dysplasia and p53 overexpression, followed by a systematic analysis of similar cases. Our findings reveal that the clinical presentation of DM-LE, while typically considered benign, shares clinical and histological features with hydroxyurea-associated squamous dysplasia (HUSD), a precancerous condition that may progress to SCC in chronically exposed patients. Key insights include the characteristic histopathological findings of DM-LE, the role of chronic HU therapy and UV-induced damage in promoting p53 overexpression, and the overlap between DM-LE and HUSD. Regular dermatologic monitoring, patient education on photoprotection, and the careful assessment of skin lesions in long-term HU users are essential for the early detection and prevention of malignancies. This review underscores the importance of distinguishing between DM-LE, HUSD, and SCC to optimize management and minimize risks associated with HU therapy. Full article

Background: Hydroxyurea (HU) is a widely used chemotherapeutic agent for myeloproliferative disorders, yet its long-term use can rarely trigger a dermatomyositis-like (DM-like) eruption characterized solely by cutaneous manifestations without muscle involvement or serologic markers. This study presents a case of HU-induced DM-like eruption and reviews the literature regarding this rare occurrence. Methods: A 77-year-old woman with polycythemia vera on long-term HU therapy developed a progressively worsening, erythematous, scaly, and crusted eruption on the face, neck, and anterior thorax. Comprehensive clinical evaluations, laboratory tests (including normal muscle enzymes and negative autoimmune panels), and skin biopsies were performed. In parallel, a systematic literature review was conducted using databases such as PubMed, Scopus, and Google Scholar, incorporating case reports and series published prior to January 2025 that provided detailed individual clinical data. Results: The patient exhibited hallmark DM-like cutaneous features—interface dermatitis with basal vacuolar degeneration and prominent dermal mucin deposition—without evidence of muscle weakness or positive myositis-specific antibodies. The literature review of 23 cases revealed a median latency of 5 years from HU initiation to skin eruption, with the dorsal hands most frequently affected. HU discontinuation, often combined with systemic and topical corticosteroids (and, in some cases, steroid-sparing agents), resulted in lesion resolution in over 90% of cases, with a median healing time of approximately 3 months. Conclusions: HU-induced DM-like eruption, though infrequent, is a distinct clinical entity requiring prompt recognition and management. The main treatment is the discontinuation of HU, which, when supplemented by appropriate corticosteroid therapy, leads to significant clinical improvement. Ongoing dermatologic surveillance is recommended for patients on long-term HU therapy due to the potential risk of premalignant skin changes. Full article

Background/Objectives: Dermatomyositis (DM) is an autoimmune disease with rarely reported central nervous system involvement, such as encephalopathy. However, no objective characterization of dermatomyositis patients with neurocognitive decline has been previously addressed. Methods: Herein, we describe the immunophenotype, clinical, and neuroimaging features of three DM patients with encephalopathy. Results: The neurocognitive profile of the three patients was characterized by abnormalities in attention, working memory, and language. PET/CT demonstrated temporal and occipital cortical hypometabolism with hypermetabolism in the mesial temporal region, cerebellar, and basal nuclei. The peripheral immunophenotype of DM patients with encephalopathy demonstrated enhanced expression of PD-1+ in CD4+ and CD8+ T cells in comparison with DM patients without encephalopathy. In comparison to healthy controls, DM patients with encephalopathy had increased naïve CD4+, CD57+, and CD4+ T cells, effector memory (TEM), and CD73+ and CD8+ T cells. Additionally, the normalization of cerebral metabolism and clinical behavior after immunosuppressive treatment was evidenced. Conclusions: The PET/CT profile and peripheral immunophenotype (PD-1+, TEM, CD57+, and CD73+) could help to recognize DM patients who are prone to developing encephalopathy symptoms in order to avoid sequelae. Full article

Background/Objectives: This study compared chest high-resolution computed tomography (HRCT) findings between patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive and antibody-negative progressive pulmonary fibrosis (PPF) with polymyositis/dermatomyositis (PM/DM). Methods: Of the 85 patients with PM/DM-interstitial lung disease (ILD), 17 were anti-MDA5 antibody-positive, and 68 were antibody-negative. Among these, 5 anti-MDA5 antibody-positive and 9 antibody-negative cases met the criteria for PPF and were enrolled in the study. The chest HRCT findings and the duration from treatment initiation to the appearance of key fibrotic changes were analyzed. Results: In the anti-MDA5-positive group, all patients were diagnosed with PPF within 6 months of treatment initiation, compared to only 22.2% in the anti-MDA5-negative group. While there was no difference between the anti-MDA5 antibody-positive and antibody-negative groups in terms of chest HRCT findings associated with PPF, the duration to the appearance of increased traction bronchiectasis and bronchiolectasis, and new ground-glass opacity with traction bronchiectasis was significantly shorter in the anti-MDA5-positive group (p = 0.016 and p = 0.023, respectively). The appearance of new fine reticulations and increased coarseness of reticular abnormalities tended to be shorter in the anti-MDA5 antibody-positive group than in the antibody-negative group. Conclusions: Pulmonary fibrosis in patients with anti-MDA5 antibody-positive ILD can rapidly progress within 6 months, despite immunosuppressive therapy. Frequent HRCT monitoring and early combination therapy with antifibrotic agents are crucial for managing the progression of fibrosis. Full article

Nasopharyngeal carcinoma (NPC) with paraneoplastic dermatomyositis (DM) is an exceptionally rare clinical phenomenon, particularly among European populations. This case report details a 46-year-old woman initially diagnosed with DM, later confirmed to have NPC. Such an association is more frequently documented in Asian populations, highlighting its unique presentation in this case. The patient first developed symptoms in December 2016, which progressed significantly by spring 2017, manifesting as progressive proximal muscle weakness, characteristic skin changes, and elevated muscle enzyme levels. Diagnostic workup, including electromyography and biopsy, confirmed DM. Persistent symptoms and secondary DM suspicion prompted further malignancy screening, which identified undifferentiated NPC with strong Epstein–Barr virus RNA positivity. Multimodal treatment comprising corticosteroids, hydroxychloroquine, chemotherapy, and radiotherapy led to temporary symptomatic improvement. Despite initial success, the patient’s condition deteriorated, and she passed away by the end of 2018. This case underscores the importance of comprehensive malignancy screening in DM patients, considering rarer cancers like NPC even in non-endemic regions. It emphasizes the role of multidisciplinary care and adherence to international guidelines for managing such complex cases. Recognizing NPC-associated DM remains critical for early intervention and tailored therapeutic approaches to improve clinical outcomes and survival. Full article

Background/Objectives: Dermatomyositis (DM) is a rare idiopathic inflammatory myopathy characterized by muscle weakness and typical cutaneous rash. Dermatomyositis-specific antibodies, such as anti-TIF1γ, anti-SAE, anti-Mi2, anti-MDA5, and anti-NXP2, have been associated with specific clinical phenotypes. Our study aimed to describe the clinical profile of Moroccan patients with DM and clinical associations with myositis-specific antibodies. Methods: We recruited 54 adult patients with DM according to the Bohan and Peter criteria, admitted to the internal medicine and dermatology departments of the University Hospital Center Ibn Rochd of Casablanca from January 2020 to December 2023. Testing for myositis-specific autoantibodies (MSAs) was conducted using an Immunodot assay. Statistical analysis was performed using the Chi-square test. Results: Among our patients, 74% were female. The mean age of the patients at the time of diagnosis was 45.8 years (±12.95 years). The main clinical manifestations were a V-neck sign (70.4%), myalgia (70.4%), Gottron’s papules (68.5%), heliotrope rash (63%), arthritis/arthralgia (48.1%), proximal muscle weakness (68.5%), periungual erythema (46.3%), and dysphagia (59.3%). Of the 54 patients, 37 (68.5%) showed dermatomyositis-specific antibody positivity. The most frequently found autoantibody was anti-Mi2 (22.2%), followed by anti-TIF1γ (14.8%), anti-NXP2 (9.2%), anti-MDA5 (7.4%), and anti-SAE (7.4%). The association between clinical manifestations and MSAs showed that anti-TIF1γ antibodies were associated with the V-neck sign (p < 0.05), and the MSA-negative group was protected from periungual erythema (p < 0.05). No other significant association was found. Conclusions: This study shows the autoantibody profile of Moroccan patients with DM and the associations of MSAs with clinical manifestations. Full article

Background/Objectives: Calcinosis cutis (CC) is a condition that may develop in the course of several autoimmune connective tissue diseases (ACTDs). Among these, the conditions most frequently associated with CC are systemic sclerosis (SSc) and dermatomyositis (DM). Despite both the prevalence and diversity of available treatment options, therapeutic recommendations remain not fully established due to a limited number of studies and lack of unambiguous evidence regarding their effectiveness. Case Presentation: We report two cases of patients with DM and concomitant massive cutaneous calcifications who were treated: in the case of a 71-year-old man with DM and past medical history of primary cutaneous T-cell lymphoma (CTCL) who received intralesional (IL) 25% sodium thiosulfate (STS) with platelet-rich plasma (PRP) injections, and, in the case of a second patient, 24-year-old woman with nephrolithiasis, who received intravenous immunoglobulin (IVIG) infusions at a dose of 2 g/kg in combination with prednisone at a dose of 5 mg/day. Conclusions: The applied treatment led to reduction in pain, size, and number of calcified lesions. Additionally, healing of fingertip ulcers after PRP injections was observed. While this report highlights only two isolated cases, the use of IVIG and STS with PRP injections appears to be an effective treatment method. Nevertheless, both standardization and additional research are required. Full article

Background/Objectives: Idiopathic inflammatory myopathies (IIMs) are rare autoimmune disorders characterized by progressive proximal muscle weakness and varying extra-muscular manifestations. The latest 2017 EULAR/ACR criteria classify them into subgroups. This study aims to evaluate the role of nailfold capillaroscopy (NFC) as a diagnostic and prognostic tool in IIMs by comparing capillaroscopic patterns across different IIM subtypes. Methods: We conducted an observational, cross-sectional study at the Institute of Rheumatology in Belgrade, analyzing 90 patients diagnosed with IIMs per the 2017 EULAR/ACR criteria. Patients were categorized into dermatomyositis (DM) (n = 37), polymyositis (PM) (n = 35), amyopathic dermatomyositis (ADM) (n = 13), and juvenile dermatomyositis (JDM) (n = 5). A control group of 35 patients with primary Raynaud’s phenomenon was also included. NFC findings, clinical manifestations, and laboratory data were compared across the groups. Results: In DM, 81.9% exhibited a scleroderma capillaroscopic pattern, which was also present in 76.9% of ADM patients. In PM, the most common pattern was nonspecific changes (48.6%). JDM patients showed a high prevalence of scleroderma changes (n = 4 (80%)). Scleroderma patterns correlated with Gottron’s papules, heliotrope rash, periungual erythema, Raynaud’s phenomenon, and interstitial lung disease (ILD). No significant differences were found in laboratory parameters across capillaroscopic groups, except for a higher prevalence of anti-Jo1 antibodies in patients with nonspecific capillaroscopic changes. Conclusions: NFC is a valuable tool for differentiating IIM subtypes and correlating clinical manifestations with specific capillaroscopic patterns. The high prevalence of scleroderma changes in DM and ADM suggests their potential as a diagnostic and prognostic marker in IIMs. Further research with larger cohorts is warranted to validate these findings. Full article

There is a well-established relationship between different subsets of idiopathic inflammatory myopathies (IIMs, myositis) and interstitial lung disease (ILD), with lung complications sometimes presenting prior to myopathic manifestations. The subtypes of myositis include those that are strongly associated with ILD, such as polymyositis (PM) and dermatomyositis (DM). Research has shown that in certain patients, these can then be further divided into subtypes using myositis-specific antibodies (MSAs), which are specific for myositis, and myositis-associated antibodies (MAAs), which can be found in myositis in overlap syndromes with other connective tissue diseases (CTDs). Notably, certain MSAs and MAAs are associated with ILD in patients with myositis. The clinical presentations of ILD in patients with myositis can vary widely and can be insidious in onset and difficult to diagnose. As ILD can progress rapidly in some cases, it is essential that clinicians are able to identify and diagnose ILD in patients with myositis. For this reason, the aim of this review is to highlight the clinical features, diagnostic criteria, important histopathologic, laboratory, and radiographic features, and treatment modalities for those patients with myositis-associated ILD. Full article

Skin lesions are frequently observed in children with rheumatic diseases, particularly in conditions such as IgA vasculitis (IgAV) and Kawasaki disease (KD). In paediatric vasculitis, the presence of skin lesions serves as an early indicator, emphasising the importance of timely diagnosis to prevent complications, such as cardiac or renal involvement. Conversely, autoinflammatory disorders like juvenile systemic lupus erythematosus (SLE) and juvenile dermatomyositis (DM) may manifest with cutaneous manifestations either at the onset of disease or during its progression. Identifying these skin lesions prior to the appearance of systemic symptoms offers an opportunity for early diagnosis and treatment, which has a positive influence on the outcomes. Additionally, it is noteworthy that specific rheumatological conditions, such as acute rheumatic fever (ARF) or oligoarticular or polyarticular forms of juvenile idiopathic arthritis (JIA), may exhibit occasional, but significant skin involvement, which is strongly correlated with an unfavourable prognosis. The assessment of skin is important in the holist approach to assessing patients for potentially systemic/multisystem disorder and helps distinguish discrete conditions. Full article

Anti-melanoma differentiation-associated gene 5 (MDA-5) dermatomyositis (DM) is noteworthy for its association with rapidly progressive interstitial lung disease (RP-ILD), vasculopathy, and distinctive cutaneous features. First identified in a Japanese cohort in 2005, MDA-5 DM carries a significant mortality risk, emphasizing the crucial need for early diagnosis. This review explores the pathogenesis, clinical presentation, diagnosis, management, and prognosis of MDA-5 DM and ILD and includes new research and recommendations regarding disease management. Full article

Extracellular vesicles (EVs) are lipid-bilayer particles secreted from cells that primarily assist in cell-to-cell communication through the content of their cargo, such as proteins and RNA. EVs have been implicated in the pathogenesis of various autoimmune diseases, including dermatomyositis (DM), an inflammatory autoimmune disease characterized by distinct cutaneous manifestations, myopathy, and lung disease. We sought to review the role of EVs in DM and understand how they contribute to the pathogenesis and clinical characterization of the disease. We summarized the research progress on EVs in dermatomyositis based on recent publications. EV cargoes, such as double-stranded DNA, microRNA, and proteins, contribute to DM pathogenesis and mediate the proinflammatory response and cytokine release through signaling pathways such as the stimulator of interferon genes (STING) pathway. These nucleic acids and proteins have been proposed as disease-specific, stable biomarkers to monitor disease activity and responses to therapy. They also correlate with clinical parameters, inflammatory markers, and disease severity scores. Furthermore, some markers show an association with morbidities of DM, such as muscle weakness and interstitial lung disease. The continued study of EVs will help us to further elucidate our understanding of dermatomyositis. Full article

Background: Anti-MDA5 antibody-bearing (anti-MDA5⁺)-dermatomyositis (DM) or polymyositis (PM) is notorious for causing rapidly progressive interstitial lung disease (RPILD) and/or cancers with high mortality rate. However, anti-MDA5 antibodies (Abs) are also found in other connective tissue diseases and their link with RPILD, especially with regard to the mortality rate, are unknown. Methods: We retrospectively recruited 71 patients bearing anti-MDA5-Abs in serum, stratified them in terms of a presence or absence of RPILD, and evaluated their clinical features, laboratory findings, associated myositis antibodies, concurrent connective tissue disease (CTD) as well as newly developed malignancies. Results: In total, 39 (55%) patients presented with DM/PM, but 32 (45%) did not. In total, 22 of the former and 11 of the latter developed RPILD eventually, accounting for a total of 46% of all MDA-5 bearing patients. On the other hand, 15 of all 71 (21.1%) patients had cancers. Among the 32 patients who did not have DM/PM, 27 (38.0% of all 71) had other CTDs, indicating that only 5 (7.0% of 71) patients did not have CTDs. Senility (odds ratio (OR) = 1.816, p = 0.032), presence of anti-Ro-52 antibody (OR = 1.676, p = 0.018), elevated C-reactive protein (CRP, OR = 4.354, p < 0.001) and carcinoembryonic antigen (CEA, OR = 2.625, p = 0.005) posed risks for RPILD. High lactose dehydrogenase (LDH, p = 0.009), CRP (p = 0.001) and CEA (p = 0.001), ferritin (p ≤ 0.001) and low albumin (p ≤ 0.001) were significantly associated with mortality. Anti-SAE antibodies were negatively correlated with RPILD as analyzed by univariate (OR = 0.245, p = 0.017) and multivariate (OR = 0.058, p = 0.036) regressions, indicating that they may be a protective factor in relation to RPILD (OR = 0.543, p = 0.008) or fatality (OR = 0.707, p = 0.012), which was also demonstrated in subgroup analyses. Conclusions: In contrast to various risk factors for RPILD or mortality, anti-SAE antibodies might conversely be a protective factor in anti-MDA5⁺ patients. Full article