MDA5-positive dermatomyositis: an uncommon entity in Europe with variable clinical presentations

Clinical and Molecular Allergy

Cristina Scaletti¹  Francesco Liotta¹  Boaz Palterer¹  Anna Radice¹  Paola Parronchi¹ 

[1] Unit of Internal Medicine, Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, Florence, 50134, Italy

关键词: Clinically amyopathic dermatomyositis;    CADM;    MDA5;    Dermatomyositis;   

Others  :  1231977
DOI  :  10.1186/s12948-015-0031-y

 received in 2015-06-18, accepted in 2015-08-26,  发布年份 2015

【 摘 要 】

Clinically amyopathic dermatomyositis (CADM), described almost 50 years ago, is defined on the basis of still not validated criteria and characterized by skin findings almost without muscle weakness. Autoantibodies directed against the cytosolic pathogen sensor MDA5 (CADM 140) can mark this subtype of dermatomyositis which has been reported to associate, in particular ethnic groups, with severe progressive interstitial lung disease, poor prognosis and an hyperferritinemic status resembling hemophagocytic-like syndromes. MDA5 may be relevant in that Interferon-signature claimed to characterize inflammatory myopathies and dermatomyosits itself, but its role is not clear. However, the titre of anti-MDA5 autoantibodies seems to correlate with the outcome. In Caucasian populations the association between anti-MDA5 positive CADM and rapidly progressive interstitial lung disease seems to be weaker, but the limited numbers of patients described so far could explain the lack of statistical significance. As a fact, European patients with circulating anti-MDA5 autoantibodies may be clinically inhomogeneous and exhibit different rates of severity. The two patients affected by anti-MDA5 positive dermatomyositis described hereafter provide a clear example of the extreme variability of the disease in terms of laboratory findings and clinical features.

【 授权许可】

   
2015 Parronchi et al.

【 图 表 】

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