Successful treatment with tofacitinib for anti-melanoma differentiation-associated gene 5 antibody-positive juvenile dermatomyositis: case reports and review of the literature

References

• Rider LG, Nistala K. The juvenile idiopathic inflammatory myopathies: pathogenesis, clinical and autoantibody phenotypes, and outcomes. J Intern Med. 2016;280(1):24–38. doi:10.1111/joim.12444.
   PubMed Web of Science ®Google Scholar
• Wu JQ, Lu MP, Reed AM. Juvenile dermatomyositis: advances in clinical presentation, myositis-specific antibodies and treatment. World J Pediatr. 2020;16(1):31–43. doi:10.1007/s12519-019-00313-8.
   PubMed Web of Science ®Google Scholar
• Stringer E, Singh-Grewal D, Feldman BM. Predicting the course of juvenile dermatomyositis: significance of early clinical and laboratory features. Arthritis Rheum. 2008;58(11):3585–3592. doi:10.1002/art.23960.
   PubMedGoogle Scholar
• Mathiesen P, Hegaard H, Herlin T, et al. Long-term outcome in patients with juvenile dermatomyositis: a cross-sectional follow-up study. Scand J Rheumatol. 2012;’41(1):50–58. doi:10.3109/03009742.2011.608376.
   PubMed Web of Science ®Google Scholar
• Yamasaki Y, Kobayashi N, Akioka S, et al. Clinical impact of myositis-specific autoantibodies on long-term prognosis of juvenile idiopathic inflammatory myopathies: multicentre study. Rheumatology. 2021;60(10):4821–4831. doi:10.1093/rheumatology/keab108.
   PubMed Web of Science ®Google Scholar
• Kobayashi I, Akioka S, Kobayashi N, et al. Clinical practice guidance for juvenile dermatomyositis (JDM) 2018-Update. Mod Rheumatol. 2020;30(3):411–423. doi:10.1080/14397595.2020.1718866.
   PubMedGoogle Scholar
• Varnier GC, Pilkington CA, Wedderburn LR. Juvenile dermatomyositis: novel treatment approaches and outcomes. Curr Opin Rheumatol. 2018;30(6):650–654. doi:10.1097/BOR.0000000000000538.
   PubMed Web of Science ®Google Scholar
• Nishi K, Ogura M, Tamai N, et al. Successful rituximab treatment for severe rapidly progressive interstitial lung disease with anti-MDA5 antibody-positive juvenile dermatomyositis: a case report and literature review. Pediatr Rheumatol Online J. 2022;20(1):60. doi:10.1186/s12969-022-00723-5.
   PubMed Web of Science ®Google Scholar
• Varnier GC, Consolaro A, Cheng IL, et al. Experience with the use of mycophenolate mofetil in juvenile idiopathic inflammatory myopathies. Rheumatology. 2023;62(SI2):SI163–SI169. doi:10.1093/rheumatology/keac404.
   PubMed Web of Science ®Google Scholar
• Shimizu M, Inoue N, Takeda Y, et al. Concurrent treatment with rituximab and plasma exchange for rapidly progressive interstitial lung disease complicating anti-MDA5 antibody-positive juvenile dermatomyositis. J Clin Rheumatol. 2021;27(8S):S798–S799. doi:10.1097/RHU.0000000000001460.
   PubMed Web of Science ®Google Scholar
• Shirai T, Machiyama T, Sato H, et al. Intensive induction therapy combining tofacitinib, rituximab and plasma exchange in severe anti-melanoma differentiation-associatedprotein-5 antibody-positive dermatomyositis. Clin Exp Rheumatol. 2023;41(2):291–300. doi:10.55563/clinexprheumatol/8kulbf.
   PubMed Web of Science ®Google Scholar
• Lu X, Peng Q, Wang G. Anti-MDA5 antibody-positive dermatomyositis: pathogenesis and clinical progress. Nat Rev Rheumatol. 2024;20(1):48–62. doi:10.1038/s41584-023-01054-9.
   PubMed Web of Science ®Google Scholar
• Yamaguchi K, Yamaguchi A, Onuki Y, et al. Clinical features of dermatomyositis associated with anti-MDA5 antibodies by age. Mod Rheumatol. 2021;31(1):177–185. doi:10.1080/14397595.2020.1740400.
   PubMed Web of Science ®Google Scholar
• Jin Q, Fu L, Yang H, et al. Peripheral lymphocyte count defines the clinical phenotypes and prognosis in patients with anti-MDA5-positive dermatomyositis. J Intern Med. 2023;293(4):494–507. doi:10.1111/joim.13607.
   PubMed Web of Science ®Google Scholar
• Abu-Rumeileh S, Marrani E, Maniscalco V, et al. Lung involvement in juvenile idiopathic inflammatory myopathy: a systematic review. Autoimmun Rev. 2023;22(10):103416. doi:10.1016/j.autrev.2023.103416.
   PubMed Web of Science ®Google Scholar
• Ladislau L, Suárez-Calvet X, Toquet S, et al. JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis. Brain. 2018;141(6):1609–1621. doi:10.1093/brain/awy105.
   PubMed Web of Science ®Google Scholar
• Hornung T, Janzen V, Heidgen FJ, et al. Remission of recalcitrant dermatomyositis treated with ruxolitinib. N Engl J Med. 2014;371(26):2537–2538. doi:10.1056/NEJMc1412997.
   PubMed Web of Science ®Google Scholar
• Kurasawa K, Arai S, Namiki Y, et al. Tofacitinib for refractory interstitial lung diseases in anti-melanoma differentiation-associated 5 gene antibody-positive dermatomyositis. Rheumatology. 2018;57(12):2114–2119. doi:10.1093/rheumatology/key188.
   PubMed Web of Science ®Google Scholar
• Sabbagh S, Almeida de Jesus A, Hwang S, et al. Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib. Brain. 2019;142(11):e59–e59. doi:10.1093/brain/awz293.
   PubMed Web of Science ®Google Scholar
• Sözeri B, Demir F. A striking treatment option for recalcitrant calcinosis in juvenile dermatomyositis: tofacitinib citrate. Rheumatology. 2020;59(12):e140–e141. doi:10.1093/rheumatology/keaa360.
   PubMed Web of Science ®Google Scholar
• Quintana-Ortega C, Remesal A, Ruiz de Valbuena M, et al. Fatal outcome of anti-MDA5 juvenile dermatomyositis in a paediatric COVID-19 patient: a case report. Mod Rheumatol Case Rep. 2021;5(1):101–107. doi:10.1080/24725625.2020.1832755.
   PubMedGoogle Scholar
• Yu Z, Wang L, Quan M, et al. Successful management with Janus kinase inhibitor tofacitinib in ­refractory juvenile dermatomyositis: a pilot study and literature review. Rheumatology. 2021;60(4):1700–1707. doi:10.1093/rheumatology/keaa558.
   PubMed Web of Science ®Google Scholar
• Chan Ng PLP, Mopur A, Goh DYT, et al. Janus kinase inhibition in induction treatment of anti-MDA5 juvenile dermatomyositis-associated rapidly progressive interstitial lung disease. Int J Rheum Dis. 2022;25(2):228–231. doi:10.1111/1756-185X.14258.
   PubMed Web of Science ®Google Scholar
• Kaplan MM, Çelikel E, Güngörer V, et al. Cardiac involvement in a case of juvenile dermatomyositis with positive anti-melanoma differentiation associated protein 5 antibody. Int J Rheum Dis. 2023;26(8):1582–1585. doi:10.1111/1756-185X.14630.
   PubMed Web of Science ®Google Scholar
• Sato S, Murakami A, Kuwajima A, et al. Clinical utility of an enzyme-linked immunosorbent assay for detecting anti-melanoma differentiation-associated gGene 5 autoantibodies. PLoS One. 2016;11(4):e0154285. doi:10.1371/journal.pone.0154285.
   PubMed Web of Science ®Google Scholar
• Wang Y, Luo J, Lv X, et al. Tofacitinib for new-onset adult patients with anti-melanoma differentiation-associated 5 gene antibody positive dermatomyositis. Clin Rheumatol. 2023;42(7):1847–1853. doi:10.1007/s10067-023-06567-y.
   PubMed Web of Science ®Google Scholar
• Le Voyer T, Gitiaux C, Authier FJ, et al. JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study. Rheumatology. 2021;60(12):5801–5808. doi:10.1093/rheumatology/keab116.
   PubMed Web of Science ®Google Scholar
• Wendel S, Venhoff N, Frye BC, et al. Successful treatment of extensive calcifications and acute pulmonary involvement in dermatomyositis with the janus-kinase inhibitor tofacitinib - a report of two cases. J Autoimmun. 2019;100:131–136. doi:10.1016/j.jaut.2019.03.003.
   PubMed Web of Science ®Google Scholar
• Paik JJ, Casciola-Rosen L, Shin JY, et al. Study of tofacitinib in refractory dermatomyositis: an open-label pilot study of ten patients. Arthritis Rheumatol. 2021;73(5):858–865. doi:10.1002/art.41602.
   PubMed Web of Science ®Google Scholar
• Agarwal I, Panda M, Das A. Tofacitinib in paediatric dermatoses: a narrative review. Clin Exp Dermatol. 2022;47(7):1256–1264. doi:10.1111/ced.15175.
   PubMed Web of Science ®Google Scholar
• Heinen A, Schnabel A, Brück N, et al. Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis? Rheumatology. 2021;60(4):e136–e138. doi:10.1093/rheumatology/keaa657.
   PubMed Web of Science ®Google Scholar
• Hiraoka D, Ishizaki J, Horie K, et al. A case of clinically amyopathic dermatomyositis that was refractory to intensive immunosuppressive therapy including tofacitinib, but successfully treated with plasma exchange therapy. Mod Rheumatol Case Rep. 2022;6(2):194–198. doi:10.1093/mrcr/rxab054.
   PubMedGoogle Scholar
• Jamilloux Y, El Jammal T, Vuitton L, et al. JAK inhibitors for the treatment of autoimmune and inflammatory diseases. Autoimmun Rev. 2019;18(11):102390. doi:10.1016/j.autrev.2019.102390.
   PubMed Web of Science ®Google Scholar
• Winthrop KL. The emerging safety profile of JAK inhibitors in rheumatic disease. Nat Rev Rheumatol. 2017;13(4):234–243. doi:10.1038/nrrheum.2017.23.
   PubMed Web of Science ®Google Scholar
• Huang B, Wang X, Niu Y, et al. Long-term follow-up of janus-kinase inhibitor and novel active disease biomarker in juvenile dermatomyositis. Rheumatology. 2023;62(3):1227–1237. doi:10.1093/rheumatology/keac399.
   PubMed Web of Science ®Google Scholar
• Paik JJ, Lubin G, Gromatzky A, et al. Use of Janus kinase inhibitors in dermatomyositis: a systematic literature review. Clin Exp Rheumatol. 2023;41(2):348–358. doi:10.55563/clinexprheumatol/hxin6o.
   PubMed Web of Science ®Google Scholar
• Schwartz DM, Kanno Y, Villarino A, et al. JAK inhibition as a therapeutic strategy for immune and inflammatory diseases. Nat Rev Drug Discov. 2017;16(12):843–862. doi:10.1038/nrd.2017.201.
   PubMed Web of Science ®Google Scholar
• Brooks AJ, Dai W, O'Mara ML, et al. Mechanism of activation of protein kinase JAK2 by the growth hormone receptor. Science. 2014;344(6185):1249783. doi:10.1126/science.1249783.
   PubMed Web of Science ®Google Scholar
• Aeschlimann FA, Frémond ML, Duffy D, et al. A child with severe juvenile dermatomyositis treated with ruxolitinib. Brain. 2018;141(11):e80–e80. doi:10.1093/brain/awy255.
   PubMed Web of Science ®Google Scholar
• Sanchez GAM, Reinhardt A, Ramsey S, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018;128(7):3041–3052. doi:10.1172/JCI98814.
   PubMed Web of Science ®Google Scholar
• Landon-Cardinal O, Benveniste O, Allenbach Y. Reply: treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib. Brain. 2019;142(11):e60. doi:10.1093/brain/awz294.
   PubMedGoogle Scholar
• Clowse ME, Feldman SR, Isaacs JD, et al. Pregnancy outcomes in the tofacitinib safety databases for rheumatoid arthritis and psoriasis. Drug Saf. 2016;39(8):755–762. doi:10.1007/s40264-016-0431-z.
   PubMed Web of Science ®Google Scholar
• Leroy C, Rigot JM, Leroy M, et al. Immunosuppressive drugs and fertility. Orphanet J Rare Dis. 2015;10(1):136. doi:10.1186/s13023-015-0332-8.
   PubMed Web of Science ®Google Scholar
• Chen Z, Wang X, Ye S. Tofacitinib in amyopathic dermatomyositis-associated interstitial lung disease. N Engl J Med. 2019;381(3):291–293. doi:10.1056/NEJMc1900045.
   PubMed Web of Science ®Google Scholar