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Scleroderma
Published in Jason Liebowitz, Philip Seo, David Hellmann, Michael Zeide, Clinical Innovation in Rheumatology, 2023
In the past ten years, there have been significant advancements in the management and treatment of systemic sclerosis. The FDA approval of two medications—nintedanib and tocilizumab—in the treatment of SSc-associated ILD represents major achievements as no approved treatment existed in the past. Nintedanib is to be used in combination with mycophenolate as an antifibrotic to prevent further progression of SSc-associated ILD. Tocilizumab is to be used early in the management of ILD, especially in those patients at high risk of progression whose laboratory values demonstrate elevated inflammatory markers. With multiple randomized clinical trials in the treatment of diffuse cutaneous SSc in the past five years and more such trials on the horizon, prospects for effective drug therapy to treat this complex autoimmune disease are promising, and the future of scleroderma care looks brighter than ever.
Non-erythematous lesions
Published in Richard Ashton, Barbara Leppard, Differential Diagnosis in Dermatology, 2021
Richard Ashton, Barbara Leppard
In rare instances, morphoea can be extensive, and when involving large areas of the chest wall breathing may be impeded. It is not related to systemic sclerosis, which is a widespread multi-system disease. There is a rare and mutilating form of linear morphoea in children in which the underlying muscle and bone are involved as well as the skin, causing problems with growth and permanent deformity.
Connective tissue disease
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
Scleroderma may be divided into: Localized cutaneous form (morphoea) with areas of waxy, thickened skin, usually on the forearms and hands.Systemic sclerosis associated with Raynaud's phenomenon and organ involvement.CREST (calcinosis, Raynaud's phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) syndrome.The skin in systemic sclerosis is typically bound down to produce sclerodactyly, beaking of the nose, a fixed facial expression and limitation of mouth opening. Skin ulceration and partial digit amputation are common.Systemic involvement usually takes the form of progressive fibrosis and includes the oesophagus most commonly (80%), lungs (45%), heart (40%) and kidneys (35%).
How to conduct research of rare autoimmune diseases
Published in Modern Rheumatology, 2018
Systemic sclerosis is one of autoimmune disease characterized by fibrosis of connective tissues resulting in organ damage. We collected more than 1000 DNA from patients with SSc in Japanese in collaboration with many researchers. We collaborated with French group with comparative number of GWAS data and conducted meta-analysis and follow-up study to identify novel susceptibility genes. As a result, our data set included 4436 cases and 14,751 controls. We successfully identified PRDM1 and GSDM1 as novel susceptibility genes to SSc [24]. Especially, PRDM1 is adjacent to ATG5, a known susceptibility gene to SSc and was not identified as a susceptibility gene in previous studies. We found that a variant showing strongest association with ATG5 was absent in Asian population and PRDM1 showed an independent association from ATG5. This example well described the impact of trans-ethnic meta-analysis which used different LD architectures to identify unknown susceptibility markers.
The power of the EUSTAR cohort: key findings to date and implications for management of systemic sclerosis patients
Published in Expert Review of Clinical Immunology, 2020
Francesco Benvenuti, Elisabetta Zanatta, Jérôme Avouac, Ulf Müller-Ladner, Franco Cozzi, Anna-Maria Hoffmann-Vold, Armando Gabrielli, Oliver Distler, Marco Matucci-Cerinic, Yannick Allanore, Andrea Doria
Unfortunately, despite the progresses made in recent years, Systemic Sclerosis treatment is still considered challenging, since disease-modifying drugs for SSc are still not available to date. Over the past decade, several new drugs have been evaluated in an ‘off-label’ use and in a restricted number of SSc patients. In this context, EUSTAR made possible to collect a substantial number of treated patients and to derive interesting observations on different drugs (e.g. rituximab, abatacept, tocilizumab) [64–66, 68,69]. This has significantly improved the knowledge of the treatment of SSc in a real-life scenario and substantially stimulated and promoted others RCTs. Nevertheless, there is currently no silver bullet to control microangiopathy, inflammation, and fibrosis altogether.
Factors associated with symptoms of depression among informal caregivers of people with systemic sclerosis: a cross-sectional study
Published in Disability and Rehabilitation, 2020
Mara Cañedo-Ayala, Danielle B. Rice, Brooke Levis, Marie-Eve Carrier, Julie Cumin, Vanessa L. Malcarne, Mariët Hagedoorn, Brett D. Thombs
Systemic sclerosis, also known as scleroderma, is a rare chronic autoimmune disease, in which abnormal fibrotic processes and excessive collagen production result in skin thickening, damage to internal organs, including the lungs, kidneys, and gastrointestinal tract, and vascular implications [24]. Scleroderma prevalence has been reported to be between 150 and 300 cases per million [25]. Disease onset is most common between 30 and 50 years of age with approximately 80% of people affected being women [25]. Patients with scleroderma experience a range of problems that affect quality of life, including gastrointestinal symptoms, respiratory problems, fatigue, pain, pruritus, symptoms of depression, and disfiguring changes in appearance [26].