Review
Medicine, General & Internal
Kholoud Almaabdi, Zareen Ahmad, Sindhu R. Johnson
Summary: Systemic sclerosis is an autoimmune disease characterized by immune abnormalities, vasculopathy, and fibrosis. Autoantibody testing, including ANA, anti-Scl-70, and anticentromere antibodies, has become increasingly important for diagnosis and prognostication. This review examines the epidemiology, clinical associations, and prognostic value of advanced autoantibody testing in systemic sclerosis.
Article
Immunology
Patrick Coit, Kaila L. Schollaert, Emily M. Mirizio, Kathryn S. Torok, Amr H. Sawalha
Summary: The study assessed DNA methylation differences between juvenile systemic sclerosis (jSSc) and juvenile localized scleroderma (jLS), revealing distinct epigenetic patterns and unique methylated genes in both diseases. Compared to healthy controls, differential methylation sites and genes were identified in jSSc and jLS, indicating potential novel diagnostic biomarkers for localized scleroderma. Pathway analysis showed enrichment of inflammatory pathways in jSSc and the HIPPO signaling pathway in jLS, highlighting different biological processes involved in each condition.
CLINICAL IMMUNOLOGY
(2021)
Review
Medicine, General & Internal
Mahmoud Nassar, Victoria Ghernautan, Nso Nso, Akwe Nyabera, Francisco Cuevas Castillo, Wan Tu, Luis Medina, Camelia Ciobanu, Mostafa Alfishawy, Vincent Rizzo, Saphwat Eskaros, Mamdouh Mahdi, Mohamed Khalifa, Mohamed El-Kassas
Summary: The gastrointestinal tract is frequently affected in individuals with systemic/localized scleroderma, leading to various GI manifestations and complications. Females are more susceptible to developing scleroderma, and esophageal and intestinal symptoms are common. Abnormal bowel movement and bacterial overgrowth contribute to malabsorption and increased mortality rate. Fecal incontinence is a common symptom that can lead to depression.
Article
Rheumatology
Robyn T. Domsic, Shiyao Gao, Maureen Laffoon, Steven Wisniewski, Yuqing Zhang, Virginia Steen, Robert Lafyatis, Thomas A. Medsger
Summary: Regardless of whether the first SSc manifestation or first non-Raynaud manifestation is used to define disease onset, a disease duration of less than 18 months at enrollment is preferable. A longer disease duration criterion more frequently results in regression to the mean of the mRSS score, which likely contributes to negative trial outcomes.
Review
Health Care Sciences & Services
Francesco Reggiani, Gabriella Moroni, Claudio Ponticelli
Summary: Systemic sclerosis is a chronic autoimmune disease that often involves the kidneys. Scleroderma renal crisis is the most serious renal event associated with this condition, and early and aggressive treatment is necessary to prevent irreversible organ damage and death.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Rheumatology
Burcu Ayoglu, Michele Donato, Daniel E. Furst, Leslie J. Crofford, Ellen Goldmuntz, Lynette Keyes-Elstein, Judith James, Susan Macwana, Maureen D. Mayes, Peter McSweeney, Richard A. Nash, Keith M. Sullivan, Beverly Welch, Ashley Pinckney, Rong Mao, Lorinda Chung, Purvesh Khatri, Paul J. Utz
Summary: Results from the SCOT clinical trial showed that HSCT had significant benefits over CTX in patients with systemic sclerosis. The objective of this study was to test the hypothesis that transplantation stabilizes the autoantibody repertoire in patients with favorable clinical outcomes. Analysis of autoantibody profiles revealed significant differences between HSCT and CTX-treated patients, suggesting that HSCT alters the autoantibody repertoire while CTX treatment does not.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Immunology
Fatemeh Vafashoar, Kazem Mousavizadeh, Hadi Poormoghim, Amir Haghighi, Salar Pashangzadeh, Nazanin Mojtabavi
Summary: The study found that progesterone treatment increased collagen content in fibrotic and normal lung tissues, as well as increased alpha-SMA and TGF-beta in fibrotic lung tissues while decreasing MMP9. Furthermore, progesterone treatment also decreased the gene expression of Col1a2, Ctgf, and End1 in bleomycin-injured lung tissues.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Serena Fineschi
Summary: COVID-19 infection can trigger autoimmune diseases like systemic sclerosis (SSc) and lead to the production of autoantibodies. This case report describes a patient who developed autoantibody production and symptoms affecting the skin and gastrointestinal system after mild COVID-19 infection, eventually being diagnosed with SSc.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Immunology
Claire F. Beesley, Nina R. Goldman, Taher E. Taher, Christopher P. Denton, David J. Abraham, Rizgar A. Mageed, Voon H. Ong
Summary: Systemic sclerosis (SSc) is an immune-mediated rheumatic disease characterized by excessive extracellular matrix deposition. B cells play a fundamental role in the pathogenesis and development of SSc, as they infiltrate lesional sites and produce profibrotic cytokines. B cell counts are increased in SSc patients and show differences in various B cell compartments. B cell signaling is impaired in SSc patients, and B cell depletion therapy has shown therapeutic benefits.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Immunology
Maheswari Muruganandam, Angie Ariza-Hutchinson, Rosemina A. Patel, Wilmer L. Sibbitt
Summary: Systemic sclerosis is a complex autoimmune disease characterized by vascular damage, inflammation, and fibrosis. Biomarkers play an important role in understanding the disease process and potential therapeutic targets. Anti-nuclear antibodies are classical biomarkers, while other proteins and pathways are also implicated. The use of biomarker panels combined with advanced analysis techniques can help determine disease activity and treatment response.
JOURNAL OF INFLAMMATION RESEARCH
(2023)
Review
Rheumatology
Michael Hughes, Bashar Kahaleh, Christopher P. Denton, Justin C. Mason, Marco Matucci-Cerinic
Summary: In patients with SSc, the presence of SSc-AAV is associated with a severe disease course, typically presenting with features of microscopic polyangiitis or renal-limited vasculitis. The interaction between SSc and AAV exacerbates vascular disease, with similar patterns of major organ involvement. Current management strategies are based on treating SSc-AAV similar to isolated AAV, highlighting the need for further investigation and therapeutic strategies specific to this rare clinical entity.
Review
Cardiac & Cardiovascular Systems
Peter Glynn, Sarah Hale, Tasmeen Hussain, Benjamin H. Freed
Summary: Systemic sclerosis (SSc) is a complex connective tissue disease that can affect various structural components of the heart, often being clinically silent in early disease. A review of cardiac imaging modalities emphasizes the importance of early detection and treatment optimization in SSc patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Rheumatology
Maya Malaab, Ludivine Renaud, Naoko Takamura, Kip D. Zimmerman, Willian A. da Silveira, Paula S. Ramos, Sandra Haddad, Marc Peters-Golden, Loka R. Penke, Bethany Wolf, Gary Hardiman, Carl D. Langefeld, Thomas A. Medsger, Carol A. Feghali-Bostwick
Summary: Our study identified distinct molecular features in dermal fibroblasts of systemic sclerosis patients, including dysregulated transcription factors and microRNAs, suggesting a role for epigenetic dysregulation in disease susceptibility. This highlights the potential for using epigenetic modifiers as future therapies in systemic sclerosis.
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Rheumatology
Francesco Zulian, Gloria Lanzoni, Biagio Castaldi, Alessandra Meneghel, Francesca Tirelli, Elisabetta Zanatta, Giorgia Martini
Summary: This study reports the first case series of patients with ssJSSc, a rare condition in childhood characterized by no skin involvement. Compared to classic JSSc, ssJSSc showed a longer diagnostic delay, higher frequency of cardiac involvement, and worse outcomes.
Review
Immunology
Konstantinos Melissaropoulos, George Iliopoulos, Lazaros Sakkas, Dimitrios Daoussis
Summary: Systemic sclerosis is a rare fibrotic rheumatic disease that is associated with psychological distress, skin involvement, and internal organ damage. The understanding of its complex pathogenesis is incomplete and current therapeutic algorithms are not optimal. B cells play a significant role in systemic sclerosis, with imbalances and abnormal receptor signaling being key factors of interest.
FRONTIERS IN IMMUNOLOGY
(2022)