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Anti-synthetase syndrome (AS) is a subset of idiopathic inflammatory myopathy (IIM) characterized by the presence of anti-aminoacyl-transfer RNA synthetase accompanied by myositis, interstitial lung disease and other clinical features. According to a recent multicentric study, 31% of AS patients present skin lesions compatible with dermatomyositis, but sclerodermiform features are rare. Therefore, we aimed to report the case of a patient with simultaneous diagnosis of AS, deep morphea, vasculitic neuropathy, and myelodysplastic syndrome and review the current literature regarding these uncommon associations. A 57 year old man with axial and symmetrical proximal muscle weakness, skin thickening and B symptoms, later diagnosed with PL7 + AS, deep morphea, myelodysplastic syndrome (MDS) and vasculitic neuropathy documented by histopathologic studies and immunologic assessments. Since both AS and deep morphea share the vasculopathic changes and type II interferon-induced inflammation, we hypothesize that they may share pathogenic mechanisms. The muscle biopsy of the patient was consistent with AS and showed focal neutrophil infiltration. The patient received intensive immunosuppressive therapy for AS and vasculitic neuropathy, with high dose steroids, intravenous immunoglobulin (IVIg) and rituximab. Nonetheless, he suffered an unfavorable evolution with a fatal outcome due to septic shock. Albeit sclerodermiform features are rare in patients with AS, we propose a pathogenic link among AS, deep morphea and the autoimmune/autoinflammatory signs of MDS. The vasculopathic changes along with the activation of the innate and adaptive immune system leading to the production of proinflammatory cytokines may have been one of the contributing factors for the coexisting diagnosis of the patient.
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Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Agustín Hernández-López, Yatzil Reyna-Juárez, María José Ostos-Prado, Beatriz Alcalá-Carmona, Jiram Torres-Ruiz & Diana Gómez-Martín
Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Silvia Méndez-Flores & Salvador Escobar-Ceballos
Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Braulio Martínez-Benitez
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Agustín Hernández-López: Conception and Design: Led the planning and design of the case-based review. Acquisition of Data: Oversaw the collection of relevant case data and literature. Drafting the Article: Took part in preparing the manuscript. Critical Revision of the Article: Critically reviewed the manuscript for important intellectual content. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Yatzil Reyna-Juárez: Acquisition of Data: Contributed to the collection of relevant case data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript for important intellectual content. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. María José Ostos-Prado: Acquisition and interpretation of Data: Contributed to the collection of relevant case data and literature and Interpretation of clinical Data. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Beatriz Alcalá-Carmona: Conception and Design: Contributed to the planning and design of the case-based review. Acquisition of Data and Interpretation of Data: Participated in the collection and interpreation of relevant clinical and laboratory case data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Jiram Torres-Ruiz: Conception and Design: Contributed to the planning and design of the case-based review. Interpretation and Analysis of Data: Contributed to the analysis of relevant case data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Silvia Méndez-Flores: Acquisition of Data: Participated in the collection of relevant case data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Salvador Escobar-Ceballos: Acquisition of Data: Contributed to the collection of relevant case data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Braulio Martínez-Benitez: Acquisition and Interpretation of Data: Participated in the collection and interpretation of relevant histopathologic data and literature. Drafting the Article: Assisted in drafting specific sections of the manuscript. Critical Revision of the Article: Reviewed and critically revised the manuscript. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. Diana Gómez-Martín: Conception and Design: Played a major role in the planning and design of the case-based review. Interpretation and Analysis: Significantly contributed to the interpretation and analysis of clinical data. Critical Revision of the Article: Coordinated the critical revisions and integrated feedback from all authors. Final Approval of the Version to be Published: Provided final approval of the manuscript for publication. All authors have read and approved the final version of the manuscript and agree to be accountable for the integrity and accuracy of all aspects of the work. Open Access Funding: Based on the absence of funding to cover Open Access fee, the authors choose to not include this option for publication.
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Hernández-López, A., Reyna-Juárez, Y., Ostos-Prado, M.J. et al. Anti-synthetase and myelodysplastic syndromes with deep morphea: an example of shared immunopathogenesis? A case-based review. Rheumatol Int (2024). https://doi.org/10.1007/s00296-024-05717-y
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