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A Case of Anti-Melanoma Differentiation Associated ...
A Case of Anti-Melanoma Differentiation Associated Gene 5 Dermatomyositis
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This case describes a 25-year-old woman with a history of Raynaud’s syndrome and cutaneous lupus who presented to the emergency department with bilateral hand ulcerations, facial edema, joint pain, weakness, weight loss, and worsening painful skin lesions. Exam showed periorbital rash, ulcerating lesions on the hands and elbows, palmar pustules, and inflammatory changes over both elbows. She had multiple recent hospitalizations for presumed infected skin ulcers and had already undergone elbow debridement, bursectomy, and prolonged IV antibiotics.<br /><br />Initial workup showed elevated inflammatory markers and a positive ANA, but other autoimmune and infectious studies were largely negative. Imaging of the elbows demonstrated soft tissue swelling and ulceration, with MRI showing inflammatory/reactive changes consistent with cellulitis, superficial fasciitis, and mild myositis. Infectious disease treated her with vancomycin and cefepime, while rheumatology raised concern for amyopathic dermatomyositis and ordered a myositis panel.<br /><br />The patient was later rehospitalized for worsening upper-extremity lesions. CTA ruled out interstitial lung disease, an important complication of anti-MDA5 dermatomyositis. The myositis panel returned positive for anti-MDA5 antibodies, confirming the diagnosis. She was started on IVIG, continued on monthly IVIG and daily prednisone, and later added mycophenolate mofetil, with clinical improvement in ulcerations.<br /><br />The discussion emphasizes that anti-MDA5 dermatomyositis can be difficult to diagnose because it has a broad differential and may present with prominent skin disease rather than muscle weakness. It carries high mortality due to rapidly progressive ILD, so delays in diagnosis can be dangerous. This case highlights the importance of early recognition and shows successful treatment with IVIG and mycophenolate mofetil in a patient without ILD.
Asset Subtitle
Rina Joshi
Meta Tag
Author List
John H. Oneill Jr., Maryah Mansoor, Rina Joshi
Category
Clinical Vignettes
Concept
Anti-MDA5 Dermatomyositis
Concept
Anti-MDA5 Antibody
Concept
Rapidly Progressive Interstitial Lung Disease
Concept
Skin ulcer
Concept
Dermatomyositis
Distinguished
Non-Finalist
Presenter Organization
Christiana Care
Presenting Author
Rina Joshi
Track
Adult
Keywords
anti-MDA5 dermatomyositis
amyopathic dermatomyositis
cutaneous ulcers
Raynaud syndrome
cutaneous lupus
myositis panel
intravenous immunoglobulin
mycophenolate mofetil
interstitial lung disease
skin lesions
Anti-MDA5 Dermatomyositis
Anti-MDA5 Antibody
Rapidly Progressive Interstitial Lung Disease
Skin ulcer
Dermatomyositis
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