Anti‐<scp>MDA</scp>5 positive clinically amyopathic dermatomyositis presenting with severe cardiomyopathy

Pau-Charles, Ignasi; Moreno, Pedro; Ortiz-Ibáñez, K.; Lucero, M.C.; García‐Herrera, A.; Espinosa, Gerard; Nicolás, J.M.; Castro, Pedro; Grau, Josep M.; Casciola‐Rosen, Livia; Mascaró, José M.

doi:10.1111/jdv.12300

Cited by 24 publications

(23 citation statements)

References 17 publications

(30 reference statements)

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“…However, only 28 cases of DM manifesting with panniculitis have been described in the medical literature to date. [ 6 7 ] To our knowledge, our case represents the first to show panniculitic lesions on the dorsal inferior extremities in association with CADM.…”

Section: Discussionmentioning

confidence: 73%

Livedo racemosa, reticulated ulcerations, panniculitis and violaceous plaques in a 46-year-old woman

Agulló

Hinds

Larrea

et al. 2018

Indian Dermatol Online J

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Section: Discussionmentioning

confidence: 73%

Livedo racemosa, reticulated ulcerations, panniculitis and violaceous plaques in a 46-year-old woman

Agulló

Hinds

Larrea

et al. 2018

Indian Dermatol Online J

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“…The disease commonly causes death within the first 6 months of diagnosis, due to respiratory failure from RPILD 2 21 22. Only one case study with anti-MDA5 antibody positivity had concurrent cardiomyopathy, although DM is commonly associated with cardiac complications such as myocarditis, ischaemia, arrhythmias and cardiomyopathies 23–25…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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We present a case study of a 61-year-old Vietnamese woman who presents with features of dermatomyositis (DM), including Gottron’s papules, heliotrope rash, cutaneous ulcers, generalised weakness and pain, and weight loss with normal levels of creatine kinase (CK). She demonstrated features of interstitial lung disease and subsequently tested positive for anti-melanoma differentiation-associated gene 5 and anti-small ubiquitin-like modifier 1 activating enzyme antibodies, which belong to a DM subtype known as clinically amyopathic dermatomyositis and do not present with raised CK. She received standard treatment for DM, including oral prednisolone, hydroxychloroquine, mycopheonlate and topical betamethasone. The treatment successfully reversed skin changes; however, the patient remained generally weak and unable to carry out her activities of daily living.

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“…Anti-MDA5 antibodies were first detected by Sato and colleague in serum obtained from Japanese clinically amyopathic dermatomyositis (CADM) patients. 32 Initially, anti-MDA5 was reported as a particular autoantibody for CADM and termed as anti-CADM-140 during 2005. Later, the target autoantigen was recognized as gene 5 linked with melanoma differentiation (MDA5).…”

Section: Anti-mda5 Antibodies (Anti-melanoma Differentiation-associatmentioning

confidence: 99%

“…33,34 Previous studies found that anti-MDA-5 antibodies were associated with a rapidly progressive interstitial lung disease (RP-ILD), a life-threatening condition characterized by poor prognosis and resistance to immunosuppressive therapy. 32,35,36 Patients with these antibodies also present characteristic clinical features such as vasculopathy, soft erythematous papules, and skin ulcerations in nail folds and over joints' extensor surfaces. 32 According to the study by Sato et al (2013), patients with cutaneous ulcers and anti-MDA5 antibodies also have higher frequencies of fever and polyarthritis 33 .…”

Section: Anti-mda5 Antibodies (Anti-melanoma Differentiation-associatmentioning

confidence: 99%

“…32,35,36 Patients with these antibodies also present characteristic clinical features such as vasculopathy, soft erythematous papules, and skin ulcerations in nail folds and over joints' extensor surfaces. 32 According to the study by Sato et al (2013), patients with cutaneous ulcers and anti-MDA5 antibodies also have higher frequencies of fever and polyarthritis 33 .…”

Section: Anti-mda5 Antibodies (Anti-melanoma Differentiation-associatmentioning

confidence: 99%

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<p>Myositis Specific Autoantibodies: A Clinical Perspective</p>

Alenzi¹

2020

OARRR

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Dermatomyositis (DM) is an idiopathic inflammatory condition characterized by myositis and variable skin manifestation. The existence of myositis specific autoantibodies usually manifests with varying degrees of skin or muscle inflammations. The condition has a well-established association with most clinical phenotypes, and these autoantibodies are useful in informing the diagnosis, management and prognosis of the disease. DM-specific autoantibodies include anti-MDA5, anti-NXP2, anti-SAE, anti-Mi-2, anti-ARS, anti-TIF1-gamma. Anti-Mi-2 antibodies are widely associated with DM cases that exhibit mainly cutaneous symptoms, such as cuticular overgrowths, Gottron's papules while being less susceptible to complications like interstitial lung disease or malignancy. The most distinct clinical features of patients with anti-SAE antibodies are their high prevalence of dysphagia and cutaneous manifestations that antecede the development of myopathies. In addition, DM patients with positive anti-PL-7 antibodies tend to have milder myositis characterized by low levels of creatine kinase as compared to patients with positive anti-Jo-1 antibodies. The anti-NXP2 antibodies are associated with transcriptional regulation and production of various proteins targeted by other DM antibodies, while anti-TIF1-γ. facilitates the transcription of deoxyribonucleic acids and regulates the growth and subsequent differentiation of body cells by controlling the signaling of TGF-β. The present review targets DM specific autoantibodies, considering their association, significance, and clinical presentation

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Anti‐MDA5 positive clinically amyopathic dermatomyositis presenting with severe cardiomyopathy

Abstract: Clinicians should be aware of the characteristic clinical and histopathologic presentation of this variant of dermatomyositis to establish an early diagnosis. Further evidence is needed to clarify the risk of cardiac involvement in this subset of patients.

Cited by 24 publications

References 17 publications

Livedo racemosa, reticulated ulcerations, panniculitis and violaceous plaques in a 46-year-old woman

Livedo racemosa, reticulated ulcerations, panniculitis and violaceous plaques in a 46-year-old woman

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

<p>Myositis Specific Autoantibodies: A Clinical Perspective</p>

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