A rare form of dermatomyositis associated with muscle weakness and normal creatine kinase level

Kwan, Christopher; Milosevic, Suzana; Benham, Helen; Scott, Ian

doi:10.1136/bcr-2019-232260

Cited by 10 publications

(10 citation statements)

References 44 publications

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“…Histology of skin biopsies from patients with anti-MDA5 DM classically show an interface dermatitis, a histopathological pattern characterized by vacuolar changes, apoptotic keratinocytes and infiltration of CD8 + lymphocytes at the dermoepidermal junction ( 122 – 124 ). The interface dermatitis is also a classical feature observed in systemic erythematosus lupus and lichen planus.…”

Section: Pathogenesis Of the Diseasementioning

confidence: 99%

Dermatomyositis With Anti-MDA5 Antibodies: Bioclinical Features, Pathogenesis and Emerging Therapies

2021

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Anti-MDA5 dermatomyositis is a rare systemic autoimmune disease, historically described in Japanese patients with clinically amyopathic dermatomyositis and life-threatening rapidly progressive interstitial lung disease. Subsequently, the complete clinical spectrum of the disease was enriched by skin, articular and vascular manifestations. Depending on the predominance of these symptoms, three distinct clinical phenotypes with different prognosis are now defined. To date, the only known molecular component shared by the three entities are specific antibodies targeting MDA5, a cytosolic protein essential for antiviral host immune responses. Several biological tools have emerged to detect these antibodies, with drawbacks and limitations for each of them. However, the identification of this highly specific serological marker of the disease raises the question of its role in the pathogenesis. Although current knowledge on the pathogenic mechanisms that take place in the disease are still in their enfancy, several lines of evidence support a central role of interferon-mediated vasculopathy in the development of skin and lung lesions, as well as a possible pathogenic involvement of anti-MDA5 antibodies. Here, we review the clinical and biological evidences in favor of these hypothesis, and we discuss the contribution of emerging therapies that shed some light on the pathogenesis of the disease.

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Section: Pathogenesis Of the Diseasementioning

confidence: 99%

Dermatomyositis With Anti-MDA5 Antibodies: Bioclinical Features, Pathogenesis and Emerging Therapies

2021

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“…Amyopathic DM is now frequently misdiagnosed as systemic lupus erythematosus or an undifferentiated connective tissue disorder 7 . More than 90% of cases of DM are characterized by myopathic disease, symmetrical proximal muscle weakness, and elevated CK 8 . But what makes this case special is that the CPK developed without doubling, and the end result was 207 ng/ml (total CPK normal values: 10–120 micrograms per liter).…”

Section: Discussionmentioning

confidence: 99%

A 30-year-old female with dermatomyositis without high elevation of muscle enzymes: a rare case report from Syria

Hamsho,

Sleiay,

Sleiay

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and importance: Dermatomyositis (DM), sometimes referred to as inflammatory and degenerative changes in the skin and muscles, is a rare autoimmune disorder. DM is distinguished by myopathic disease, symmetrical proximal muscle weakness, and increased creatinekinase (CK). Case presentation: A 30-year-old female presented to the department of dermatology with a history of chronic right hand pain spreading to the shoulder, severe tachycardia, and dyspenia that increased during routine tasks like using the bathroom. What makes this case unique is that the CPK developed without doubling, and the final concentration was 207 ng/mL. Other common clinical symptoms include amyopathic/hypomyopathic muscle involvement and DM-specific rash (Gottron’s papules, heliotrope rash), and these manifestations were in our patients. Sun protection, topical treatment with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized for all individuals with nonvasculopathic disease. In our case, the patient stopped using azathioprine and began taking methotrexate. Clinical Discussion: Sun protection, topical therapy with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized in layers for all individuals with nonvasculopathic illnesses. Mycophenolat Mofetil (MMF) is beneficial in treating refractory illnesses as well as individuals with ILD or substantial skin disease. Conclusion: Even if test findings are not conclusive, dermatomyositis should always be considered when muscular weakness manifests. It’s important to distinguish the disorder from connective tissue diseases like lupus erythematosus. In fact, to correctly diagnose DM, if there are any doubts, a muscle biopsy is required.

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“…In previous studies, the levels and activity of classic muscle enzymes, such as creatine kinase (CK), are less frequently elevated or even decreased especially in CADM in comparison to classic dermatomyositis. 9 Patients with CADM‐ILD have increased amount and activity of lactate deydrogenaseLDH, but the isoenzyme profile remains unknown. 9 , 10 We describe a case of progressive ILD in hypomyopathic dermatomyositis during the coronavirus disease 2019 (COVID‐19) pandemic.…”

Section: Introductionmentioning

confidence: 99%

“… 9 Patients with CADM‐ILD have increased amount and activity of lactate deydrogenaseLDH, but the isoenzyme profile remains unknown. 9 , 10 We describe a case of progressive ILD in hypomyopathic dermatomyositis during the coronavirus disease 2019 (COVID‐19) pandemic.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, we hypothesize that enzyme profiling, especially in circulation, could be helpful to differentiate SARS‐CoV‐2 infection from CADM‐ILD. In previous studies, the levels and activity of classic muscle enzymes, such as creatine kinase (CK), are less frequently elevated or even decreased especially in CADM in comparison to classic dermatomyositis 9 . Patients with CADM‐ILD have increased amount and activity of lactate deydrogenaseLDH, but the isoenzyme profile remains unknown 9,10 .…”

Section: Introductionmentioning

confidence: 99%

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Progressive interstitial lung disease in hypomyopathic dermatomyositis in the COVID‐19 pandemic: A case report

Wang

Lyu

et al. 2022

Int J of Rheum Dis

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Background Clinically amyopathic dermatomyositis (CADM) is characterized by typical skin lesions with no (amyopathic) or subclinical (hypomyopathic) evidence of muscle involvement. Patients with CADM may also develop rapidly progressive interstitial lung disease (ILD), and have a poor prognosis. However, the diagnosis of rapidly progressive ILD faces a challenge during the severe acute respiratory syndrome coronavirus 2 pandemic. Severe acute respiratory syndrome and ground‐glass attenuation on a chest computed tomography scan are the presenting features in both conditions. Case presentation A 45‐year‐old woman with amyopathic dermatomyositis had acute onset of fever and dyspnea in February 2020. She had abnormal lung findings on CT scan. Polymerase chain reaction testing for SARS‐CoV‐2 was not available at that time. Chest CT revealed non‐specific manifestations that could be either the signs of ILD or SARS‐CoV‐2 infection. Antiviral therapy was initiated with oseltamivir. Three days later, she had erythema on face, palm, and back. The ratio of lactate dehydrogenase (LDH) isoenzyme 3 to total LDH was elevated. The ratio of LDH isoenzyme 1 to total LDH was declined. Therefore, she was transferred to the rheumatology ward for further treatment. However, she died from respiratory failure 2 weeks later. Conclusions We speculate that the altered LDH isoenzyme pattern may be an early biomarker for co‐occurrence of CADM and ILD.

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A rare form of dermatomyositis associated with muscle weakness and normal creatine kinase level

Cited by 10 publications

References 44 publications

Dermatomyositis With Anti-MDA5 Antibodies: Bioclinical Features, Pathogenesis and Emerging Therapies

Dermatomyositis With Anti-MDA5 Antibodies: Bioclinical Features, Pathogenesis and Emerging Therapies

A 30-year-old female with dermatomyositis without high elevation of muscle enzymes: a rare case report from Syria

Progressive interstitial lung disease in hypomyopathic dermatomyositis in the COVID‐19 pandemic: A case report

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