Enhanced skin expression of melanoma differentiation-associated gene 5 (MDA5) in dermatomyositis and related autoimmune diseases

Zahn, Sabine; Barchet, Winfried; Rehkämper, Claudia; Hornung, Thorsten; Bieber, Thomas; Tüting, Thomas; Wenzel, Joerg

doi:10.1016/j.jaad.2010.08.004

Cited by 30 publications

(28 citation statements)

References 8 publications

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“…One study of Chinese patients noted that MDA5 reactivity was detected at a significantly higher frequency among clinically amyopathic DM (CADM) patients than in classic DM patients, but was not detected in patients with polymyositis, SLE, Sjögren’s syndrome, or mixed connective tissue disease, nor was it detected in a limited number of patients with idiopathic pulmonary fibrosis or in healthy controls [10]. A similar study of a Mediterranean cohort showed comparable results, with no evidence of anti-MDA5 positivity in a control group of 25 SLE patients [12, 13]. …”

Section: Discussionmentioning

confidence: 99%

Anti-MDA5 Antibody Dermatomyositis Overlap with Systemic Lupus Erythematosus: A Case Report and Review of the Literature

Milam

Futran

Franks

2016

TORJ

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Background:Dermatomyositis (DM) is an autoimmune connective tissue disease that primarily targets the muscle, skin, and lungs. Many patients have autoantibodies that correspond to distinct clinical phenotypes. Melanoma differentiation-associated gene 5 (anti-MDA5) antibody, a specific antibody that targets the melanoma differentiation-associated gene 5 (MDA5), has been reported in DM cases and is significant for a distinct cutaneous presentation and rapidly progressive interstitial lung disease.Objective:Herein, we describe a patient with DM with a positive anti-MDA5 antibody and characteristic clinical phenotype, who subsequently developed coexisting systemic lupus erythematosus (SLE). A diagnosis of SLE was supported by his clinical phenotype, positive serologies, hypocomplementemia, and progression to glomerulonephritis and lupus cerebritis, features of which fulfilled the American College of Rheumatology criteria for SLE.Conclusion:DM is known to overlap with other autoimmune diseases, including SLE, and coexistence can lead to a wide variety of clinical presentations. SLE overlapping with anti-MDA5 positive DM may present with distinct clinical features.

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Section: Discussionmentioning

confidence: 99%

Anti-MDA5 Antibody Dermatomyositis Overlap with Systemic Lupus Erythematosus: A Case Report and Review of the Literature

Milam

Futran

Franks

2016

TORJ

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“…It plays an important role in the recognition of double-stranded RNA viruses and mediates the induction of antiviral genes and type I interferon [15]. It has been shown that MDA5 is overexpressed in skin lesions of chronic discoid lupus erythematosus, DM and lichen planus [16]. These data implicate MDA5 in autoimmunity, even if the precise mechanism of its involvement remains unclear.…”

Section: Discussionmentioning

confidence: 99%

“…Current hypotheses propose that increased interferon production may play a crucial role in vascular and skin lesions [17,18]. Tissue damage would then either result in intracellular antigen release or increase MDA5 expression, resulting in loss of tolerance to MDA5 followed by the production of anti-MDA5 antibody [6,16,19]. Alternatively, anti-MDA5 autoantibody could be an epiphenomenon during viral infections associated with CADM [10].…”

Section: Discussionmentioning

confidence: 99%

Response of Mucocutaneous Lesions to Rituximab in a Case of Melanoma Differentiation Antigen 5-Related Dermatomyositis

Clottu¹,

Laffitte²,

Prins³

et al. 2012

Dermatology

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We report the first case in Western Europe of a person presenting with dermatomyositis associated with melanoma differentiation antigen 5 antibodies. She sequentially developed severe mucocutaneous erythematous and itchy lesions of the face, scalp, neck, knees and recurrent aphthae. In addition she presented painful, periungual, edematous digital lesions and small ulcers with digital necrosis. Her rapidly evolving, near-fatal interstitial lung disease responded to high-dose intravenous cyclophosphamide. However, her recurrent mucocutaneous mani-festations improved only after rituximab administration.

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“…Inflammatory conditions are also likely to influence the recognition of double-stranded RNA by RIG-like helicase receptors in KCs, as demonstrated under IFN-g stimulation (Prens et al, 2008). Enhanced expression of molecules belonging to this group of pattern recognition receptors has been reported in various skin conditions (Prens et al, 2008;Zahn et al, 2011), which suggests relevance to the inflammatory state. In agreement with this, upregulation of the receptors under IFN-a/g stimulation in the in vitro model of psoriasis has been reported (Racz et al, 2011).…”

Section: Innate Recognition Mechanisms Of Keratinocytes (Kcs)mentioning

confidence: 96%

The Epidermis as an Adjuvant

Gutowska-Owsiak

Ogg

2012

Journal of Investigative Dermatology

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It is now clear that the epidermis has an active role in local immune responses in the skin. Keratinocytes are involved early in inflammation by providing first-line innate mechanisms and, in addition, can contribute to adaptive immune responses that may be associated with clinical disease. Moreover, keratinocytes are capable of enhancing and shaping the outcome of inflammation in response to stimuli and promoting particular types of immune bias. Through understanding the underlying mechanisms, the role of keratinocytes in disease pathogenesis will be further defined, which is likely to lead to the identification of potential targets for prophylactic or therapeutic intervention.

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Enhanced skin expression of melanoma differentiation-associated gene 5 (MDA5) in dermatomyositis and related autoimmune diseases

Cited by 30 publications

References 8 publications

Anti-MDA5 Antibody Dermatomyositis Overlap with Systemic Lupus Erythematosus: A Case Report and Review of the Literature

Anti-MDA5 Antibody Dermatomyositis Overlap with Systemic Lupus Erythematosus: A Case Report and Review of the Literature

Response of Mucocutaneous Lesions to Rituximab in a Case of Melanoma Differentiation Antigen 5-Related Dermatomyositis

The Epidermis as an Adjuvant

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