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Case Reports
. 2022 Jul 23;12(8):1108.
doi: 10.3390/life12081108.

Anti-MDA5 Amyopathic Dermatomyositis-A Diagnostic and Therapeutic Challenge

Anca Bobirca  1   2 , Cristina Alexandru  2 , Anca Emanuela Musetescu  3 , Florin Bobirca  4 , Anca Teodora Florescu  2 , Magdalena Constantin  5 , Tiberiu Tebeica  6 , Alesandra Florescu  3 , Sebastian Isac  7 , Mihai Bojinca  1   2 , Ioan Ancuta  1   2
Affiliations
Case Reports

Anti-MDA5 Amyopathic Dermatomyositis-A Diagnostic and Therapeutic Challenge

Anca Bobirca et al. Life (Basel). .

Abstract

Clinically amyopathic Dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis, associated with no muscular manifestations, which is more frequent in Asian women. Anti-melanoma differentiation-associated gene 5 (MDA5) antibodies are a recently discovered type of specific autoantibodies associated with myositis. The anti-MDA5 DM was initially described in Japan and later it was discovered that the _target antigen was a protein implicated in the innate immune response against viruses, that is encoded by the melanoma differentiation-associated gene 5. Anti-MDA5 DM is characteristically associated with distinguished mucocutaneus and systemic manifestations, including skin ulcerations, palmar papules, arthritis, and interstitial-lung disease. Patients with anti-MDA5 positivity have a high risk of developing rapid progressive interstitial-lung disease (RP-ILD), with a poor outcome. As a result, despite high mortality, diagnosis is often delayed, necessitating increased awareness of this possible condition. Despite a severe course of lung disease and an increased mortality rate, there is currently no standard treatment. Recent insights based on observational studies and case reports support combined therapy with immunosuppressive drugs and corticotherapy, as soon as the symptoms appear. The aim of this paper is to describe anti-MDA5 DM, focusing on the recent literature about the unique clinical manifestations and therapeutic options, starting from a severe clinical case diagnosed in our Rheumatology Department.

Keywords: COVID-19; amyopathic dermatomyositis; anti-MDA5 antibodies; rapid-progressive interstitial-lung disease.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Hand of the patient; Gottron’s signs on the dorsum of the hand (mild manifestation).
Figure 2
Figure 2
Chest CT scans one month prior to admission showing bilateral ground glass opacities of the lower lobes.
Figure 3
Figure 3
Chest X-ray revealing an increased interstitial infiltration over bilateral lung fields and a juxta-pleural opacity (Hampton hump sign); R-right.
Figure 4
Figure 4
Skin Biopsy revealing inflammatory infiltrate, mucin deposits, basement membrane thickening (arrows).
Figure 5
Figure 5
Nailfold video capillaroscopy.
Figure 6
Figure 6
Chest CT scan revealing pulmonary lesions in >90% of total pulmonary architecture.
Figure 7
Figure 7
Heliotrope rash in a patient with dermatomyositis.
Figure 8
Figure 8
V-sign in a patient with dermatomyositis—erythematous papules located on the anterior thorax.
Figure 9
Figure 9
Gottron’s papules and periungual erythema in a patient with dermatomyositis.
See this image and copyright information in PMC

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References

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