Case Report
 
Amyopathic Dermatomyositis (Anti-MDA 5 disease) with pulmonary fibrosis and features of lupus, without evidence of malignancy: A Case Report
Luis W. Dominguez1, Marissa Sansone1, Valentin Marian2
1Departments of Medicine, Jersey City Medical Center, 355 Grand Street, Jersey City, New Jersey, US
2Departments of Rheumatology, Jersey City Medical Center, 355 Grand Street, Jersey City, New Jersey, US

Article ID: 100014Z14LD2018
doi: 10.5348/100014Z14LD2018CR

Corresponding Author:
Luis W. Dominguez, MD, MPH
Department of Internal Medicine
Jersey City Medical Center
355 Grand St, Jersey City, New Jersey 07302, US

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How to cite this article
Dominguez LW, Sansone M, Marian V. Amyopathic Dermatomyositis (Anti-MDA 5 disease) with pulmonary fibrosis and features of lupus, without evidence of malignancy: A Case Report. J Case Rep Images Orthop Rheum 2018;3:100014Z14LD2018.


ABSTRACT

Introduction: Amyopathic Dermatomyositis (ADM) is a distinct subclass of Dermatomyositis (DM). It presents with similar skin findings of Gottron’s papules and cutaneous ulcerations, however it does not have myositis. Like DM, it is highly associated with malignancy, but unlike DM, there is a higher rate of progressive pulmonary fibrosis/interstitial lung disease (ILD). The presence of melanoma differentiation-associated gene 5 (MDA-5) antibodies are correlated with cutaneous findings but are not necessary for diagnosis. There is significant clinical and serological overlap between ADM and other autoimmune rheumatological conditions.

Case Report: A 44-year-old Hispanic female with a medical history of hypothyroidism presented with an intermittent rash for the past six years. The rash was painful, pruritus and photosensitive. Physical exam revealed hyperpigmentation and keratosis over the metacarpal phalanges and periorbital erythema and edema. There were areas of alopecia and diffuse joint swelling and tenderness. Strength was intact. Pulmonary auscultation revealed diffuse crackles. Computed tomography of her chest confirmed pulmonary fibrosis. DM, complicated by a connective tissue disease was considered, however creatinine phospho-kinase (CPK) and aldolase levels were within normal limits. Accordingly, ADM was diagnosed and treatment was administered. MDA-5 antibodies were not available at any regional testing sites. Serology was positive for anti-nuclear (ANA) and cardiolipin antibodies. She failed azathioprine therapy, but responded to cyclophosphamide induction with bridging to mycophenolate, and Nintedanib for pulmonary fibrosis.

Conclusion: ADM has a higher incidence of rapidly progressive pulmonary fibrosis, and significant overlap with other rheumatological conditions such as Lupus (SLE) and auto-immune hepatitis, as seen here. First line treatment is prednisone with steroid sparing agent azathioprine. Our patient failed first line treatment, but did respond to cyclophosphamide induction and mycophenolate maintenance, alongside Nintedanib for her pulmonary fibrosis..

Keywords: Amyopathic Dematomyositis, Anti MDA-5 disease, Dematomyositis overlap syndromes


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Funding
Funding, where applicable, was split between the authors and the home institution.
Patient Protections
Given that this is a case report, without any personally identifying information, informed consent was not required. All research was conducted with respect for persons, in accordance with the Declaration of Helsinki.
Author Contributions
Luis W. Dominguez – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Marissa Sansone – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Valentin Marian – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of Submission
The corresponding author is the guarantor of submission.
Source of Support
None
Consent Statement
Written informed consent was obtained from the patient for publication of this case report.
Conflict of Interest
Author declares no conflict of interest.
Copyright
© 2018 Luis W. Dominguez et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.