SHM Converge Scientific Abstract ePoster Gallery-Mda-5 Dermatomyositis: Not the Fries With Your Buerger's

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This case describes a 60-year-old African American man initially diagnosed with Buerger’s disease who actually had MDA-5 dermatomyositis (DM). He presented with painful penile and scrotal ulcerations, digital ischemia, palmar skin lesions, bloody diarrhea, major weight loss, and worsening shortness of breath over six months. No vascular cause for the ischemia was identified, and a prior myositis panel had shown positive anti-MDA-5 antibodies. Malignancy workup was negative.<br /><br />Laboratory studies showed elevated inflammatory markers with normal CK and aldolase, supporting an amyopathic process rather than classic myositis. Autoimmune testing was otherwise largely negative except for weak EJ and positive anti-SS-A 52 kD antibodies. A palmar biopsy showed capillary dilation and non-occlusive fibrin thrombus, with changes concerning for thrombosis or vasculitis. High-resolution CT revealed interstitial lung disease consistent with NSIP, and pulmonary function tests showed a restrictive defect.<br /><br />Despite treatment with antiplatelet agents, anticoagulation, and aggressive immunosuppression including prednisone, rituximab, mycophenolate mofetil, and cyclophosphamide, the disease progressed.<br /><br />The case highlights that MDA-5 DM can present without prominent muscle involvement but with severe vasculopathy and rapidly progressive interstitial lung disease, which can be fatal. Its skin manifestations may include painful palmar papules, ulcerations, oral lesions, patchy alopecia, and classic dermatomyositis rashes. In contrast, Buerger’s disease is usually limited to younger male smokers and rarely causes systemic features or has confirmatory laboratory findings. The authors emphasize that ischemic ulcerations and palmar papules should prompt evaluation for autoimmune disease, and that ILD should be excluded early while awaiting serologic confirmation. Early recognition is crucial to improve outcomes.

Asset Subtitle

Jessica Guidici

Meta Tag

Author List Christopher Overton, Galen Foulke, Jessica Guidici, Jessica Guidici

Category Clinical Vignettes

Concept Anti-MDA5 Dermatomyositis

Concept Interstitial Lung Disease

Concept Rapidly Progressive Interstitial Lung Disease

Concept Amyopathic Dermatomyositis

Concept Anti-MDA5 Antibody

Distinguished Non-Finalist

Presenter Organization UNC Health

Presenting Author Jessica Guidici

Track Adult

Keywords

MDA-5 dermatomyositis

amyopathic dermatomyositis

digital ischemia

penile ulcerations

scrotal ulcerations

interstitial lung disease

NSIP

anti-MDA-5 antibodies

vasculopathy

palmar papules

Anti-MDA5 Dermatomyositis

Interstitial Lung Disease

Rapidly Progressive Interstitial Lung Disease

Amyopathic Dermatomyositis

Anti-MDA5 Antibody