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Current Rheumatology Reports Dec 2019Juvenile dermatomyositis is a heterogeneous disease with variable clinical outcomes. Here, we describe the recognised subtypes of idiopathic inflammatory myositis which... (Review)
Review
PURPOSE OF REVIEW
Juvenile dermatomyositis is a heterogeneous disease with variable clinical outcomes. Here, we describe the recognised subtypes of idiopathic inflammatory myositis which occur in children, with particular reference to disease-associated autoantibodies.
RECENT FINDINGS
Large cohort studies have demonstrated that myositis autoantibodies are common in juvenile dermatomyositis and can be found in the majority of patients. They identify homogenous clinical subgroups and inform prognosis, particularly the risks of developing interstitial lung disease. Descriptions of immune-mediated necrotising myositis in juvenile patients have highlighted a rare but important clinical subset typically associated with severe muscle disease and treatment resistance. It is increasingly apparent that autoantibodies can provide detailed information on prognosis and the likely disease associations in those with juvenile dermatomyositis. Further work is needed to establish how this knowledge should influence our approach to treatment.
Topics: Child; Dermatomyositis; Humans
PubMed: 31828535
DOI: 10.1007/s11926-019-0871-4 -
Journal of Neuromuscular Diseases 2018Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with... (Review)
Review
Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with myositis (overlap myositis, OM) including anti-synthetase syndrome (ASS), and inclusion body myositis (IBM). Whereas DM occurs in children and adults, all other forms of myositis mostly develop in middle aged individuals. Apart from a slowly progressive, chronic disease course in IBM, patients with myositis typically present with a subacute onset of weakness of arms and legs, often associated with pain and clearly elevated creatine kinase in the serum. PM, DM and most patients with NM and OM usually respond to immunosuppressive therapy, whereas IBM is largely refractory to treatment. The diagnosis of myositis requires careful and combinatorial assessment of (1) clinical symptoms including pattern of weakness and paraclinical tests such as MRI of the muscle and electromyography (EMG), (2) broad analysis of auto-antibodies associated with myositis, and (3) detailed histopathological work-up of a skeletal muscle biopsy. This review provides a comprehensive overview of the current classification, diagnostic pathway, treatment regimen and pathomechanistic understanding of myositis.
Topics: Biopsy; Dermatomyositis; Disease Management; Electromyography; Humans; Magnetic Resonance Imaging; Muscle, Skeletal; Myositis; Myositis, Inclusion Body; Polymyositis
PubMed: 29865091
DOI: 10.3233/JND-180308 -
Clinical and Experimental Rheumatology Feb 2022Juvenile onset idiopathic inflammatory myopathy (IIM) has many similarities and distinct differences from adult-onset disease. This review will focus on recent... (Review)
Review
Juvenile onset idiopathic inflammatory myopathy (IIM) has many similarities and distinct differences from adult-onset disease. This review will focus on recent developments in understanding and treatment of juvenile dermatomyositis (JDM), the most common disease sub-type of IIM in childhood. JDM is a systemic immune mediated vasculopathy, increasingly recognised as a group of distinct phenotypes with variable presentation and outlook. This overview will describe long-term outlook and disease course including health-related quality of life and emerging treatments.
Topics: Dermatomyositis; Disease Progression; Humans; Myositis; Quality of Life; Vascular Diseases
PubMed: 35225221
DOI: 10.55563/clinexprheumatol/56ilob -
Medicina (Kaunas, Lithuania) Apr 2021Idiopathic inflammatory myopathies, including polymyositis (PM), dermatomyositis (DM), and clinically amyopathic DM (CADM), are a diverse group of autoimmune diseases... (Review)
Review
Idiopathic inflammatory myopathies, including polymyositis (PM), dermatomyositis (DM), and clinically amyopathic DM (CADM), are a diverse group of autoimmune diseases characterized by muscular involvement and extramuscular manifestations. Interstitial lung disease (ILD) has major pulmonary involvement and is associated with increased mortality in PM/DM/CADM. The management of PM-/DM-/CADM-associated ILD (PM/DM/CADM-ILD) requires careful evaluation of the disease severity and clinical subtype, including the ILD forms (acute/subacute or chronic), because of the substantial heterogeneity of their clinical courses. Recent studies have highlighted the importance of myositis-specific autoantibodies' status, especially anti-melanoma differentiation-associated gene 5 (MDA5) and anti-aminoacyl tRNA synthetase (ARS) antibodies, in order to evaluate the clinical phenotypes and treatment of choice for PM/DM/CADM-ILD. Because the presence of the anti-MDA5 antibody is a strong predictor of a worse prognosis, combination treatment with glucocorticoids (GCs) and calcineurin inhibitors (CNIs; tacrolimus (TAC) or cyclosporin A (CsA)) is recommended for patients with anti-MDA5 antibody-positive DM/CADM-ILD. Rapidly progressive DM/CADM-ILD with the anti-MDA5 antibody is the most intractable condition, which requires immediate combined immunosuppressive therapy with GCs, CNIs, and intravenous cyclophosphamide. Additional salvage therapies (rituximab, tofacitinib, and plasma exchange) should be considered for patients with refractory ILD. Patients with anti-ARS antibody-positive ILD respond better to GC treatment, but with frequent recurrence; thus, GCs plus immunosuppressants (TAC, CsA, azathioprine, and mycophenolate mofetil) are often needed in order to achieve favorable long-term disease control. PM/DM/CADM-ILD management is still a therapeutic challenge for clinicians, as evidence-based guidelines do not exist to help with management decisions. A few prospective clinical trials have been recently reported regarding the treatment of PM/DM/CADM-ILD. Here, the current knowledge on the pharmacologic managements of PM/DM/CADM-ILD was mainly reviewed.
Topics: Autoantibodies; Dermatomyositis; Humans; Lung Diseases, Interstitial; Myositis
PubMed: 33916864
DOI: 10.3390/medicina57040347 -
Arquivos de Neuro-psiquiatria May 2022Idiopathic inflammatory myopathies (IIM) are a heterogenous group of treatable myopathies. Patients present mainly to the rheumatologist and neurologists, complaining of... (Review)
Review
Idiopathic inflammatory myopathies (IIM) are a heterogenous group of treatable myopathies. Patients present mainly to the rheumatologist and neurologists, complaining of acute or subacute onset of proximal weakness. Extramuscular manifestations may occur, including involvement of the lungs, skin, and joints. Classically, the diagnosis used to be made based on the creatine kinase level increase, abnormalities in electroneuromyography and presence of inflammatory infiltrates in the muscle biopsy. Recently, the importance of autoantibodies has increased, and now they may be identified in more than half of IIM patients. The continuous clinicoseropathological improvement in IIM knowledge has changed the way we see these patients and how we classify them. In the past, only polymyositis, dermatomyositis and inclusion body myopathy were described. Currently, immune-mediated necrotizing myopathy, overlap myositis and antisynthetase syndrome have been considered the most common forms of IIM in clinical practice, increasing the spectrum of classification. Patients previously considered to have polymyositis, in fact have these other forms of seropositive IIM. In this article, we reviewed the new concepts of classification, a practical way to make the diagnosis and how to plan the treatment of patients suffering from IIM.
Topics: Autoantibodies; Dermatomyositis; Humans; Muscular Diseases; Myositis; Neurologists; Polymyositis
PubMed: 35976321
DOI: 10.1590/0004-282X-ANP-2022-S131 -
CMAJ : Canadian Medical Association... Mar 2019
Topics: Dermatomyositis; Humans; Male; Middle Aged
PubMed: 30910882
DOI: 10.1503/cmaj.180947 -
Revista Medica Del Instituto Mexicano... Jan 2023Dermatomyositis positive anti-melanoma differentiation-associated gene 5 (anti-MDA5 DM) is a rare disease that represents less than 2%. The prevalence of anti-MDA5 DM... (Review)
Review
Dermatomyositis positive anti-melanoma differentiation-associated gene 5 (anti-MDA5 DM) is a rare disease that represents less than 2%. The prevalence of anti-MDA5 DM ranges from 7 to 60%, with higher prevalence in Asian (11-60%) and women. The clinical picture may be variable and is accompanied by the typical features of dermatomyositis, such as periorbital heliotrope (blue-purple) rash with edema, erythematous rash on the face, or the anterior chest (in a V-sign), and back and shoulders (in a shawl sign), violaceous papules or plaques located on the dorsal part of the metacarpophalangeal or interphalangeal joints, which are pathognomonic by definition; yet, one of the most striking signs is the painful ulceration skin that is found in 82% of cases, which is deep and in punching holes or showing hyperkeratotic crusts. For diagnosis is necessary the typical DM rashes (Gottron's papules or Gottron's sign and heliotrope rash), along with either an "interface dermatitis" skin pathology or evidence of myositis or a MSA (myositis-specific autoantibodies). Immunoprecipitation is the gold standard method to detect MSA. Combinations of glucocorticoids and immunosuppressants are used for treatment; besides, it is necessary the detection of rapidly progressive interstitial disease (RP-ILD) with a high-resolution CT because of its high association with fatal prognosis.
Topics: Humans; Female; Dermatomyositis; Myositis; Prognosis; Exanthema; Autoantibodies
PubMed: 36542793
DOI: No ID Found -
Italian Journal of Dermatology and... Apr 2023Dermatomyositis (DM) is an autoimmune disorder, which belongs to a group of rare autoimmune dermatoses characterized by different skin features and variable muscle... (Review)
Review
Dermatomyositis (DM) is an autoimmune disorder, which belongs to a group of rare autoimmune dermatoses characterized by different skin features and variable muscle involvement. We recognize four main variants of DM: classic DM, clinically amyopathic DM, paraneoplastic DM, and juvenile DM. Clinically, patients show several skin features, but heliotrope rash, and violaceous papules located at the interphalangeal or metacarpophalangeal joints (Gottron's papules) are the most frequently observed. Together with skin features, patients show muscle involvement, most commonly with symmetrical weakness of the proximal muscles. DM belongs to the facultative paraneoplastic dermatoses and a wide range of solid or hematologic malignancies can be detected in DM patients. Serologically, a wide range of autoantibodies can be detected in patients with DM. Indeed, distinct serotypes can be related to specific phenotypes with specific clinical features, carrying a different risk for systemic involvement and for malignancies. Systemic corticosteroids are still considered the first-line approach, but several steroid-sparing agents, such as methotrexate, azathioprine or mycophenolate mofetil, have been reported as effective in treating DM. Furthermore, new class of drugs, such as monoclonal antibodies, purified immunoglobulins or Janus kinase inhibitors are becoming more relevant in the clinical practice or are currently under investigation. In this work, we aim to offer a clinical overview of the diagnostic workout, the characteristics of DM variants, the role of autoantibodies in DM, and the management of this life-threatening systemic disorder.
Topics: Humans; Dermatomyositis; Skin; Skin Diseases; Antibodies, Monoclonal; Autoantibodies
PubMed: 37153943
DOI: 10.23736/S2784-8671.23.07458-3 -
International Journal of Molecular... Apr 2022Idiopathic inflammatory myopathies (IIM), collectively known as myositis, are a composite group of rare autoimmune diseases affecting mostly skeletal muscle, although... (Review)
Review
Idiopathic inflammatory myopathies (IIM), collectively known as myositis, are a composite group of rare autoimmune diseases affecting mostly skeletal muscle, although other organs or tissues may also be involved. The main clinical feature of myositis is subacute, progressive, symmetrical muscle weakness in the proximal arms and legs, whereas subtypes of myositis may also present with extramuscular features, such as skin involvement, arthritis or interstitial lung disease (ILD). Established subgroups of IIM include dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), anti-synthetase syndrome (ASyS), overlap myositis (OM) and inclusion body myositis (IBM). Although these subgroups have overlapping clinical features, the widespread variation in the clinical manifestations of IIM suggests different pathophysiological mechanisms. Various components of the immune system are known to be important immunopathogenic pathways in IIM, although the exact pathophysiological mechanisms causing the muscle damage remain unknown. Current treatment, which consists of glucocorticoids and other immunosuppressive or immunomodulating agents, often fails to achieve a sustained beneficial response and is associated with various adverse effects. New therapeutic targets have been identified that may improve outcomes in patients with IIM. A better understanding of the overlapping and diverging pathophysiological mechanisms of the major subgroups of myositis is needed to optimize treatment. The aim of this review is to report on recent advancements regarding DM and IMNM.
Topics: Autoimmune Diseases; Dermatomyositis; Humans; Muscle Weakness; Muscle, Skeletal; Myositis; Myositis, Inclusion Body
PubMed: 35457124
DOI: 10.3390/ijms23084301 -
Current Opinion in Rheumatology Nov 2022This review summarizes the recent developments about anti-MDA5 antibody positive dermatomyositis with a focus on its pathogenesis, clinical features and treatment... (Review)
Review
PURPOSE OF REVIEW
This review summarizes the recent developments about anti-MDA5 antibody positive dermatomyositis with a focus on its pathogenesis, clinical features and treatment options of rapidly progressive interstitial lung disease, its most ominous complication.
RECENT FINDINGS
Anti-MDA5+ dermatomyositis has a heterogeneous clinical spectrum with different patient subsets exhibiting widely different outcomes; severe acute interstitial lung disease is the main factor impacting prognosis. The pathogenetic role of anti-MDA5 antibodies is an active area of investigation.
SUMMARY
Anti-MDA5+ dermatomyositis has a wider spectrum of manifestations than previously thought. A high index of suspicion is needed not to miss atypical presentations. In the setting of acute interstitial lung involvement, once a confident diagnosis is made, an aggressive approach with early combined immunosuppression affords the best chances of survival.
Topics: Autoantibodies; Dermatomyositis; Humans; Interferon-Induced Helicase, IFIH1; Lung Diseases, Interstitial; Prognosis
PubMed: 36094462
DOI: 10.1097/BOR.0000000000000908