Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis

Timmy Strauss; Claudia Günther; Anja Schnabel; Christine Wolf; Gabriele Hahn; Min Ae Lee-Kirsch; Normi Brück

doi:10.1186/s12969-023-00894-9

Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis

Pediatr Rheumatol Online J. 2023 Sep 19;21(1):104. doi: 10.1186/s12969-023-00894-9.

Authors

Timmy Strauss¹, Claudia Günther², Anja Schnabel³, Christine Wolf⁴, Gabriele Hahn⁵, Min Ae Lee-Kirsch⁴, Normi Brück³

Affiliations

¹ Faculty of Medicine, Department of Pediatrics, Pediatric Rheumatology and Immunology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. timmy.strauss@uniklinikum-dresden.de.
² Faculty of Medicine, Department of Dermatology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
³ Faculty of Medicine, Department of Pediatrics, Pediatric Rheumatology and Immunology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
⁴ Faculty of Medicine, Department of Pediatrics, Molecular Pediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
⁵ Faculty of Medicine, Department of Radiology, Pediatric Radiology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Abstract

Background: Juvenile dermatomyositis (jDM) is the most common idiopathic inflammatory myopathy of childhood. Amyopathic or hypomyopathic courses have been described.

Case presentation: We present the case of a 4-year-old patient with MDA5 antibody positive jDM and interstitial lung disease. In our patient, typical symptoms of jDM with classical skin lesions, arthritis, proximal muscle weakness, and ulcerative calcifications were observed. Due to the severity of the disease and the pulmonary changes, therapy with the Janus kinase (JAK) inhibitor ruxolitinib was added to the therapy with corticosteroids, intravenous immunoglobulins (IVIG) and hydroxychloroquine leading to a fast and sustained remission.

Conclusion: While there is growing evidence that JAK inhibition is a promising therapeutic option in jDM our case report shows that this approach may also be effective in MDA5-positive jDM with high risk features.

Keywords: Janus kinase inhibition; Juvenile dermatomyositis; MDA5 autoantibody.

Publication types

Case Reports

MeSH terms

Arthritis*
Child, Preschool
Dermatomyositis* / drug therapy
Humans
Immunoglobulins, Intravenous / therapeutic use
Janus Kinase Inhibitors* / therapeutic use
Myositis*
Risk Factors

Substances

Immunoglobulins, Intravenous
Janus Kinase Inhibitors