Successful Treatment of Rapidly Progressive Interstitial Lung Disease in Juvenile Dermatomyositis

Abstract

Juvenile dermatomyositis (JDM) is a rare systemic autoimmune disease characterized by cutaneous findings, muscle inflammation, and vasculopathy. Patients with antimelanoma differentiation associated gene 5 (anti-MDA5) JDM may have subtle muscle weakness, absence of pathognomonic rashes, and more polyarthritis and ulcerative skin lesions when compared with other JDM subtypes. Although there is a known association of rapidly progressive interstitial lung disease (RP-ILD) in patients with anti-MDA5 dermatomyositis, few case reports describe this association in the pediatric literature. Even fewer reports describe successful treatment. We report an unusual case of RP-ILD in a pediatric patient with a hypomyopathic presentation complicated by prolonged intubation and pulmonary hemorrhage. A 4-year-old underweight female presented in respiratory distress and quickly progressed to severe hypoxic and hypercarbic respiratory failure requiring intubation. She experienced fatigue, intermittent fever, and transaminitis. The diagnosis was delayed because of recent travel history and a lack of typical cutaneous features of JDM, except a small erythematous papule on her antihelix. Her pulmonary hemorrhage and ear lesion prompted additional rheumatic workup. The myositis-specific antibody panel revealed high positive anti-MDA5 antibodies that prompted aggressive combination therapy with plasmapheresis, systemic steroids, inhibitors of Janus kinase, agents to deplete B-cells, and intravenous immunoglobulin. The patient responded well to treatment and was ultimately extubated and discharged. To our knowledge, this is the first thoroughly documented case of anti-MDA5 JDM with RP-ILD presenting with pulmonary hemorrhage and lacking typical cutaneous features. Early recognition of this highly fatal condition is important for improved prognosis.