An unusual anti-melanoma differentiation-associated protein 5 amyopathic dermatomyositis.

JAAD Case Rep

Department of Dermatology, Hôpital Côte Basque, Bayonne, France.

Published: April 2019

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454120PMC
http://dx.doi.org/10.1016/j.jdcr.2019.02.019DOI Listing

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Article Synopsis
  • - Dermatomyositis sine dermatitis (DMSD) is a rare type of inflammatory muscle disease characterized by muscle symptoms without skin rashes, distinct from classic dermatomyositis and amyopathic dermatomyositis.
  • - A case study details a 28-year-old woman who developed worsening muscle weakness, leading to a diagnosis of DMSD after testing positive for anti-MDA5 antibodies and responding well to steroid treatment.
  • - Although DMSD can be linked to serious conditions like interstitial lung disease, this patient showed no lung involvement or other complications at the time of examination.
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We retrospectively analyzed the clinical and laboratory data of patients diagnosed with anti-transcriptional intermediary factor 1 (TIF-1γ) antibody-positive polymyositis (PM)/dermatomyositis (DM) to clarify the characteristics of this disease. We identified 14 patients with TIF-1γ antibody-positive DM (TIF-1γ DM), 47 with anti-aminoacyl-tRNA synthetase antibody (ARS)-positive PM/DM, and 24 with anti-melanoma differentiation-associated gene 5 antibody (MDA-5)-positive PM/DM treated at the Kurume University Hospital between 2002 and 2020. Patients with TIF-1γ DM were significantly older than the other two groups.

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The clinical presentation of dermatomyositis (DM) is diverse, with varied phenotypes that may be correlated with specific autoantibodies. The anti-melanoma differentiation-associated gene 5 (MDA5) antibody in DM is associated with an amyopathic phenotype of DM, with several unusual cutaneous manifestation and increased risk for rapidly progressive interstitial lung disease. Initial presentation may be subtle, but early diagnosis is key to initiation of proper immunosuppressive therapy.

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Rapidly progressive interstitial lung disease (RP-ILD) and its distinctive cutaneous features are highly associated with the presence of anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody in patients with dermatomyositis (DM), leading to a poor prognosis. We describe the case of a 25-year-old man who developed progressive proximal muscle weakness with RP-ILD and had unusual cutaneous findings (cutaneous ulcerations and livedo reticularis) accompanied by classical cutaneous features (heliotrope rash, Gottron's papules, Gottron's sign, and flagellate erythema). Blood test was positive for anti-MDA5 antibody.

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