RARE DISEASE
Juvenile dermatomyositis
Juvenile dermatomyositis
Juvenile dermatomyositis
Synonyms: Juvenile DM
Synonyms: Juvenile DM
Synonyms: Juvenile DM
Drug discovery
0
drugs
With orphan designations
Overview
Juvenile dermatomyositis (JDM) is a rare autoimmune vasculopathy characterized by chronic inflammation of proximal muscles and pathognomonic skin rashes (e.g., heliotrope rash, Gottron papules). It involves systemic vascular damage, leading to complications like calcinosis, dysphagia, and interstitial lung disease. Diagnosis combines clinical criteria (rash, muscle weakness), elevated muscle enzymes, MRI, and/or biopsy. Treatment focuses on immunosuppression (corticosteroids, methotrexate) and biologic therapies for refractory cases, alongside physical rehabilitation [1][6][11].
Burden
Hospitalization costs are 2–3× higher than non-JDM admissions, with longer stays in non-white populations [4][9].
Chronic complications: Calcinosis (20–40%), lipodystrophy (10%), and cardiovascular risks from prolonged steroid use [7][14][15].
Long-term morbidity: Up to 40% of patients have active disease >2 years; minority groups face persistent functional impairment [2][12][17].
Therapies
First-line: High-dose corticosteroids (e.g., prednisone) combined with methotrexate [3][6][16].
Refractory disease: Biologics (rituximab, abatacept), IV immunoglobulin, or cyclophosphamide [3][8][12].
Adjunctive: Physical therapy, sun protection (SPF 30+), and calcium/vitamin D supplementation [1][7][16].
Categories: rare neurological diseases, rare renal diseases, rare respiratory diseases, rare skin diseases, rare systemic and rheumatological diseases, rare systemic or rheumatologic diseases of childhood, rare transplant-related disorders
Research Papers
573 drug discovery papers about Juvenile dermatomyositis, with 4 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
573 drug discovery papers about Juvenile dermatomyositis, with 4 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-31 | Juvenile Dermatomyositis: A Review of the Literature
Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy of childhood, characterized by proximal muscle weakness, pathognomonic cutaneous findings, and multisystem involvement. Over the past decade, significant advances have been made in pathogenesis and treatment of JDM. This review provides a comprehensive update on the etiopathogenesis, clinical features, autoantibody profiles, and treatment of JDM. Type I interferon signaling, vasculopathy, and mitochondrial dysfunction have emerged as interconnected pathogenic mechanisms, and their identification has informed the development of targeted therapeutic strategies. In particular, elucidation of the type I interferon pathway has contributed to disease diagnosis, monitoring of disease activity through interferon-related biomarkers, and the development of novel targeted therapies. Myositis-specific autoantibodies (MSA), detected in approximately 70% of patients, define clinically distinct subgroups; for example, anti-NXP2 is associated with calcinosis, and anti-MDA5 positivity carries a risk of interstitial lung disease. Importantly, MSA subtype influences not only clinical phenotype but also treatment response, underscoring the value of systematic autoantibody testing in guiding therapeutic decisions. A treat-to-target approach and close monitoring of disease activity are recommended. In refractory disease, conventional immunosuppressants and biologic agents are escalated sequentially, with Janus kinase (JAK) inhibitors targeting the type I interferon pathway. More selective interferon blockade with anifrolumab and next-generation B-cell depletion with chimeric antigen receptor T-cell (CAR-T) cell therapy represent emerging options for patients with refractory disease. Calcinosis remains without a standardized treatment procedure, and evidence-based management is limited by the lack of pediatric randomized controlled trials. Prospective, multicenter studies are needed to establish treatment algorithms and improve long-term outcomes in this rare disease. Cite this article as: Aslan E, Kisla Ekinci RM, Torunoglu Z, Akay N, Kasapcopur O. Juvenile dermatomyositis: A review of the literature. ArchRheumatol. Published online July 31, 2026. doi: 10.5152/ArchRheumatol.2026.26552.
2026-07-10 | Vedolizumab as a rescue therapy for severe gastrointestinal involvement in anti-NXP2 positive juvenile dermatomyositis
Şengül Çağlayan, Ulaş Emre Akbulut, Tangül Pınarcı, Muhammed Gültekin Kutluk, Hasan Serdar Kıhtır; Vedolizumab as a rescue therapy for severe gastrointesti
2026-07-07 | Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Juvenile Dermatomyositis Presenting With Predominant Joint Contractures.
Anti-melanoma differentiation-associated gene 5 (MDA5) positive juvenile dermatomyositis (JDM) (anti-MDA5+ JDM) is a distinct subtype of JDM characterized by marked clinical heterogeneity. Although cutaneous manifestations and interstitial lung disease (ILD) are well recognized, atypical musculoskeletal presentations may lead to diagnostic delay. We report a 16-year-old male with anti-MDA5+ JDM who presented with progressive joint contractures as the predominant manifestation over a 2-year period. The patient also exhibited restricted mouth opening, with a classical dermatomyositis (DM) cutaneous rash absent or only mild, and proximal muscle weakness, mild to moderate. Laboratory evaluation revealed high-titer anti-MDA5 antibodies and a markedly elevated serum immunoglobulin E (IgE) level. Magnetic resonance imaging (MRI) demonstrated periarticular and soft-tissue involvement, and muscle biopsy confirmed pathological features consistent with DM. Treatment with systemic glucocorticoids in combination with methotrexate resulted in substantial improvement in joint mobility, with good tolerability during follow-up. Progressive contractures can occasionally become the predominant presenting manifestation in anti-MDA5+ JDM and contribute to diagnostic delay. This case underscores the importance of early evaluation for idiopathic inflammatory myopathies (IIM), including myositis-specific antibody (MSA) testing and muscle biopsy, in adolescents with unexplained progressive joint contractures.
2026-06-16 | Population Pharmacokinetics and Initial Dosage Recommendation of Tacrolimus in Children with Juvenile Dermatomyositis.
There is a gap in the pharmacokinetic data on tacrolimus in children with juvenile dermatomyositis (JDM). This study aimed to develop a population pharmacokinetics (PopPK) model for tacrolimus in patients with JDM and formulate model-based recommended dosing regimens. The PopPK model for tacrolimus was retrospectively developed in 31 children with JDM using nonlinear mixed-effects modeling. The trough concentrations of tacrolimus at different doses were simulated using the Monte Carlo method in children with different body weights. The one-compartment model with first-order absorption and elimination best described the pharmacokinetic data of tacrolimus. In the final model, body weight and concomitant use of voriconazole (VRC) significantly affected the apparent clearance (CL/F) of tacrolimus. The calculation of interindividual clearance was performed as follows: 12.635 × (WT/33.5)0.296 × (1-0.426 × VRC). The tacrolimus CL/F ratio in children with JDM was 1:0.574 between those without VRC coadministration and those with VRC coadministration at equivalent body weights. For patients with JDM and body weights of 10-20, 20-30, 30-40, and 40-60 kg, the recommended initial doses of tacrolimus without the combined use of VRC were 0.12, 0.08, 0.06, and 0.05 mg·kg-1·d-1 (q12h), respectively; the recommended initial doses of tacrolimus with the combined use of VRC were 0.07, 0.05, 0.04, and 0.03 mg·kg-1·d-1 (q12h), respectively. This is the first study to establish a PopPK model for tacrolimus. Drug dosage regimens devised on the basis of this model provide evidence-based recommendations for patients with JDM.
2026-05-27 | Idiopathic Inflammatory Myopathies-Treatment Perspective of Highly Specialised Rheumatology Centre.
Background/Objectives: Idiopathic inflammatory myopathies (IIMs) are chronic immune-mediated disorders, causing striated muscle weakness and extramuscular symptoms. Real-world, single-centre data are needed to interpret phenotype patterns and evolving therapies. Methods: A single-centre, retrospective cohort study was conducted at the Rheumatology Clinic of the National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland from 1 January 2022 to 31 December 2025. Data included demographics, IIM subtypes, extramuscular involvement, co-existing Sjögren disease (SD), biopsy results, autoantibodies, and treatment. Due to sample size, descriptive analysis was used. Results: The study included 35 patients (31.4% men). Mean age was 50.7 years; mean body mass index (BMI) was 26.0 kg/m2. The cohort consisted of 10 dermatomyositis (DM), one polymyositis (PM), two immune-mediated necrotising myopathy (IMNM), one inclusion body myositis (IBM), 16 anti-synthetase syndrome (ASyS), four juvenile dermatomyositis (JDM), and one clinically amyopathic dermatomyositis (CADM). SD co-occurred in eight cases, including six cases of ASyS. Anti-Jo1 was observed in 13 ASyS cases and one DM. Glucocorticoids (GCSs) were administered in all patients for induction in addition to cyclophosphamide (28.6%), mycophenolate mofetil (MMF) (51.4%), and methotrexate (MTX) (17.1%). Maintenance therapy included MTX (20%), MMF (31.4%), rituximab (34.3%), azathioprine (AZA) (42.9%), and others. Two DM, two JDM, and one ASyS patient received JAK inhibitors, one DM and one JDM anifrolumab, one IBM sirolimus, and four patients with interstitial lung disease (ILD) nintedanib. Conclusions: This Polish single-centre cohort shows effective use of novel therapies for IIM. Sirolimus, JAK inhibitors, and nintedanib were effective. Co-occurrence of SD in ASyS patients requires further research.
2026-07-31 | Juvenile Dermatomyositis: A Review of the Literature
Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy of childhood, characterized by proximal muscle weakness, pathognomonic cutaneous findings, and multisystem involvement. Over the past decade, significant advances have been made in pathogenesis and treatment of JDM. This review provides a comprehensive update on the etiopathogenesis, clinical features, autoantibody profiles, and treatment of JDM. Type I interferon signaling, vasculopathy, and mitochondrial dysfunction have emerged as interconnected pathogenic mechanisms, and their identification has informed the development of targeted therapeutic strategies. In particular, elucidation of the type I interferon pathway has contributed to disease diagnosis, monitoring of disease activity through interferon-related biomarkers, and the development of novel targeted therapies. Myositis-specific autoantibodies (MSA), detected in approximately 70% of patients, define clinically distinct subgroups; for example, anti-NXP2 is associated with calcinosis, and anti-MDA5 positivity carries a risk of interstitial lung disease. Importantly, MSA subtype influences not only clinical phenotype but also treatment response, underscoring the value of systematic autoantibody testing in guiding therapeutic decisions. A treat-to-target approach and close monitoring of disease activity are recommended. In refractory disease, conventional immunosuppressants and biologic agents are escalated sequentially, with Janus kinase (JAK) inhibitors targeting the type I interferon pathway. More selective interferon blockade with anifrolumab and next-generation B-cell depletion with chimeric antigen receptor T-cell (CAR-T) cell therapy represent emerging options for patients with refractory disease. Calcinosis remains without a standardized treatment procedure, and evidence-based management is limited by the lack of pediatric randomized controlled trials. Prospective, multicenter studies are needed to establish treatment algorithms and improve long-term outcomes in this rare disease. Cite this article as: Aslan E, Kisla Ekinci RM, Torunoglu Z, Akay N, Kasapcopur O. Juvenile dermatomyositis: A review of the literature. ArchRheumatol. Published online July 31, 2026. doi: 10.5152/ArchRheumatol.2026.26552.
2026-07-10 | Vedolizumab as a rescue therapy for severe gastrointestinal involvement in anti-NXP2 positive juvenile dermatomyositis
Şengül Çağlayan, Ulaş Emre Akbulut, Tangül Pınarcı, Muhammed Gültekin Kutluk, Hasan Serdar Kıhtır; Vedolizumab as a rescue therapy for severe gastrointesti
2026-07-07 | Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Juvenile Dermatomyositis Presenting With Predominant Joint Contractures.
Anti-melanoma differentiation-associated gene 5 (MDA5) positive juvenile dermatomyositis (JDM) (anti-MDA5+ JDM) is a distinct subtype of JDM characterized by marked clinical heterogeneity. Although cutaneous manifestations and interstitial lung disease (ILD) are well recognized, atypical musculoskeletal presentations may lead to diagnostic delay. We report a 16-year-old male with anti-MDA5+ JDM who presented with progressive joint contractures as the predominant manifestation over a 2-year period. The patient also exhibited restricted mouth opening, with a classical dermatomyositis (DM) cutaneous rash absent or only mild, and proximal muscle weakness, mild to moderate. Laboratory evaluation revealed high-titer anti-MDA5 antibodies and a markedly elevated serum immunoglobulin E (IgE) level. Magnetic resonance imaging (MRI) demonstrated periarticular and soft-tissue involvement, and muscle biopsy confirmed pathological features consistent with DM. Treatment with systemic glucocorticoids in combination with methotrexate resulted in substantial improvement in joint mobility, with good tolerability during follow-up. Progressive contractures can occasionally become the predominant presenting manifestation in anti-MDA5+ JDM and contribute to diagnostic delay. This case underscores the importance of early evaluation for idiopathic inflammatory myopathies (IIM), including myositis-specific antibody (MSA) testing and muscle biopsy, in adolescents with unexplained progressive joint contractures.
2026-06-16 | Population Pharmacokinetics and Initial Dosage Recommendation of Tacrolimus in Children with Juvenile Dermatomyositis.
There is a gap in the pharmacokinetic data on tacrolimus in children with juvenile dermatomyositis (JDM). This study aimed to develop a population pharmacokinetics (PopPK) model for tacrolimus in patients with JDM and formulate model-based recommended dosing regimens. The PopPK model for tacrolimus was retrospectively developed in 31 children with JDM using nonlinear mixed-effects modeling. The trough concentrations of tacrolimus at different doses were simulated using the Monte Carlo method in children with different body weights. The one-compartment model with first-order absorption and elimination best described the pharmacokinetic data of tacrolimus. In the final model, body weight and concomitant use of voriconazole (VRC) significantly affected the apparent clearance (CL/F) of tacrolimus. The calculation of interindividual clearance was performed as follows: 12.635 × (WT/33.5)0.296 × (1-0.426 × VRC). The tacrolimus CL/F ratio in children with JDM was 1:0.574 between those without VRC coadministration and those with VRC coadministration at equivalent body weights. For patients with JDM and body weights of 10-20, 20-30, 30-40, and 40-60 kg, the recommended initial doses of tacrolimus without the combined use of VRC were 0.12, 0.08, 0.06, and 0.05 mg·kg-1·d-1 (q12h), respectively; the recommended initial doses of tacrolimus with the combined use of VRC were 0.07, 0.05, 0.04, and 0.03 mg·kg-1·d-1 (q12h), respectively. This is the first study to establish a PopPK model for tacrolimus. Drug dosage regimens devised on the basis of this model provide evidence-based recommendations for patients with JDM.
2026-05-27 | Idiopathic Inflammatory Myopathies-Treatment Perspective of Highly Specialised Rheumatology Centre.
Background/Objectives: Idiopathic inflammatory myopathies (IIMs) are chronic immune-mediated disorders, causing striated muscle weakness and extramuscular symptoms. Real-world, single-centre data are needed to interpret phenotype patterns and evolving therapies. Methods: A single-centre, retrospective cohort study was conducted at the Rheumatology Clinic of the National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland from 1 January 2022 to 31 December 2025. Data included demographics, IIM subtypes, extramuscular involvement, co-existing Sjögren disease (SD), biopsy results, autoantibodies, and treatment. Due to sample size, descriptive analysis was used. Results: The study included 35 patients (31.4% men). Mean age was 50.7 years; mean body mass index (BMI) was 26.0 kg/m2. The cohort consisted of 10 dermatomyositis (DM), one polymyositis (PM), two immune-mediated necrotising myopathy (IMNM), one inclusion body myositis (IBM), 16 anti-synthetase syndrome (ASyS), four juvenile dermatomyositis (JDM), and one clinically amyopathic dermatomyositis (CADM). SD co-occurred in eight cases, including six cases of ASyS. Anti-Jo1 was observed in 13 ASyS cases and one DM. Glucocorticoids (GCSs) were administered in all patients for induction in addition to cyclophosphamide (28.6%), mycophenolate mofetil (MMF) (51.4%), and methotrexate (MTX) (17.1%). Maintenance therapy included MTX (20%), MMF (31.4%), rituximab (34.3%), azathioprine (AZA) (42.9%), and others. Two DM, two JDM, and one ASyS patient received JAK inhibitors, one DM and one JDM anifrolumab, one IBM sirolimus, and four patients with interstitial lung disease (ILD) nintedanib. Conclusions: This Polish single-centre cohort shows effective use of novel therapies for IIM. Sirolimus, JAK inhibitors, and nintedanib were effective. Co-occurrence of SD in ASyS patients requires further research.
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