Abstract
We present a case of anti-melanoma differentiation-associated gene 5 (Anti-MDA5) dermatomyositis (DM) in a 30-year-old female. Anti-MDA5 dermatomyositis, previously termed clinically amyopathic dermatomyositis, was first recognized in 2005. Most cases present with varying combinations of cutaneous and oral ulcerations, palmar papules, respiratory symptoms, and minor muscle involvement (most commonly in the shoulders, upper arms, hips, thighs, and neck). This subtype of disease is most notable for its association with an increased risk of rapidly progressive interstitial lung disease. Our patient presented initially with only complaints of cutaneous ulcerations on the dorsal aspect of her hands. Following several months of no true diagnosis, she developed muscle weakness and joint pain. This led to retrieval of a punch biopsy which suggested anti-MDA5 DM at the top of the differential diagnoses. Immunoprecipitation revealed the presence of melanoma differentiation-associated gene 5 (MDA5) antibodies, confirming the diagnosis of anti-MDA5 dermatomyositis. This case demonstrates the importance of pinpointing the diagnosis of this rare disease subtype in a timely manner to prevent a fatal course, and we hope to inform dermatologists, rheumatologists, pulmonologists, and internists alike of the uncommon presentation of anti-MDA5 in an unsuspected, young patient.
Highlights
We present a case of anti-melanoma differentiation-associated gene 5 (Anti-MDA5) dermatomyositis (DM) in a 30-year-old female
Anti-melanoma differentiation-associated gene 5 dermatomyositis (DM) has emerged as a unique subtype of classic dermatomyositis first described by Sato et al in 2005 with distinct mucocutaneous and systemic manifestations [1]
Anti-melanoma differentiation-associated gene 5 dermatomyositis is a unique subtype of a disease that can differ considerably from typical dermatomyositis leading to an untimely diagnosis and potentially harmful outcomes
Summary
Anti-melanoma differentiation-associated gene 5 (anti-MDA5) dermatomyositis (DM) has emerged as a unique subtype of classic dermatomyositis first described by Sato et al in 2005 with distinct mucocutaneous and systemic manifestations [1] This disease branched from previously termed 'clinically amyopathic dermatomyositis or CADM,' or idiopathic inflammatory myositis, and carries a significant risk for a fatal course if gone unrecognized. The presence of melanoma differentiation-associated gene 5 (MDA5) antibodies in adult patients with DM has been estimated to range anywhere from 7% to 25% [2] Distinct features of this subtype of disease include mucocutaneous ulcerations, palmar papules, alopecia, panniculitis, arthritis, and most notably, interstitial lung disease [3]. Months later and upon presentation to us, this patient exhibited associated symptoms of diffuse joint pain and generalized weakness Physical examination of both her hands revealed papular erythematous lesions on the dorsal aspect of the metacarpophalangeal joints characteristic of Gottron’s papules (Figure 1). The patient was initially started on a course of prednisone and was slowly transitioned to a steroid-sparing therapy, methotrexate
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