Immunopathogenesis of Juvenile Systemic Sclerosis

Stevens, Anne M.; Torok, Kathryn S.; Li, Suzanne C.; Taber, S.; Lu, Theresa; Zulian, Francesco

doi:10.3389/fimmu.2019.01352

Cited by 33 publications

(18 citation statements)

References 86 publications

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“…The disease itself is mentally poorly accepted by the patients. Our findings are similar to those from other investigators and clinicians, and pointed to isolated Raynaud's phenomenon along with positive antinuclear antibody as well as nailfold capillary changes as features of the usual insidious onset of the disease [21].…”

Section: Discussionsupporting

confidence: 92%

Juvenile systemic sclerosis – observations of one clinical centre

Rutkowska-Sak¹,

Gietka²,

Gazda³

et al. 2021

Reumatologia

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Objectives: The systemic form of scleroderma (SSc) in children is a very rare disease; therefore, it is recognized relatively late, which increases the risk of complications. The aim of the study was to assess the clinical symptoms of juvenile systemic sclerosis (JSSc) in our cohort patients. Material and methods: A group of (N = 22) scleroderma patients aged between 2 and 16 years were observed. Demographic data and all clinical results obtained during 16 years of observation in the clinic of rheumatic diseases of developmental age were collected and analysed. Results: In all observed children the major JSSc criterion was found, i.e. skin thickening proximal to the metacarpal phalangeal and/or metatarsophalangeal joints. Other symptoms are presented as follows: nailfold capillary abnormalities -100%, Raynaud's phenomenon -90.9%, sclerodactyly -27.3%, digital tip ulcers -27.3%, dysphagia -18.2%, gastroesophageal reflux -27.3% (assessed in only 10 children), arrhythmias -22.7%, heart failure -9.1%, new-onset arterial hypertension -9.1%, pulmonary fibrosis -72.7%, pulmonary arterial hypertension -9.1%, neuropathy -13.6%, carpal tunnel syndrome -4.5%, tendon friction rubs -4.5%, arthritis -22.7%, and myositis -13.6%. There were no cases of renal crisis. Decreased diffusing capacity of oxygen was confirmed in 12 patients (58.3%). The presence of antinuclear antibodies was noticed in 86.7% of patients, and among SSc selective autoantibodies: anticentromere -31.8%, anti-topoisomerase I -18.2%, anti-PM-Scl 100 or 75 -45.5%, anti-RP11, Th/To, PCNA in total in 27.3% were presented. In 4.5% of cases, apart from the presence of anti-PM-Scl autoantibodies, positive lupus band test, reduced concentration of complement, and antiphospholipid antibodies were also found. In 59% of studied children, the body mass index was below the 25th percentile. Conclusions: The presented retrospective analysis shows that the occurrence of Raynaud's phenomenon with changes in nailfold capillaroscopy is the best screening toll for the assessment of risk of JSSc. All patients of developmental age with Raynaud's phenomenon, especially in the case of the appearance of antinuclear antibodies, should be monitored with capillaroscopy regardless of other laboratory or imaging tests.

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Section: Discussionsupporting

confidence: 92%

Juvenile systemic sclerosis – observations of one clinical centre

Rutkowska-Sak¹,

Gietka²,

Gazda³

et al. 2021

Reumatologia

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“…Scleroderma. Scleroderma is an autoimmune disorder with features of fibrosis, vasculopathy, and inflammation, contributing to pathogenesis at varying stages of disease (69)(70)(71). In systemic sclerosis (SSc), the extent of skin involvement associates with prognosis, with lower survival in patients with a higher baseline skin score and improved survival in those patients with improvement in skin thickening (72).…”

Section: Ifn Effects and Involvement In Pathogenesis Of Autoimmune Skin Diseasementioning

confidence: 99%

The Role of Cutaneous Type I IFNs in Autoimmune and Autoinflammatory Diseases

Turnier

Kahlenberg

2020

The Journal of Immunology

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IFNs are well known as mediators of the antimicrobial response but also serve as important immunomodulatory cytokines in autoimmune and autoinflammatory diseases. An increasingly critical role for IFNs in evolution of skin inflammation in these patients has been recognized. IFNs are produced not only by infiltrating immune but also resident skin cells, with increased baseline IFN production priming for inflammatory cell activation, immune response amplification, and development of skin lesions. The IFN response differs by cell type and host factors and may be modified by other inflammatory pathway activation specific to individual diseases, leading to differing clinical phenotypes. Understanding the contribution of IFNs to skin and systemic disease pathogenesis is key to development of new therapeutics and improved patient outcomes. In this review, we summarize the immunomodulatory role of IFNs in skin, with a focus on type I, and provide insight into IFN dysregulation in autoimmune and autoinflammatory diseases.

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“…Corresponding data in children with SSc is rare, however PAH appears to be similar frequently in juvenile and adult SSc (4,(9)(10)(11)(12).…”

mentioning

confidence: 94%

Systemic sclerosis-associated pulmonary arterial hypertension in children

Apitz¹,

Girschick²

2021

Cardiovasc Diagn Ther

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Systemic sclerosis (SSc) usually presents with a combination of vasculopathy, inflammation, autoimmunity, and fibrogenesis that can individually vary (Figures 1-3) (1). Major complications can include digital vasculopathy, gastrointestinal complications, cardiac and pulmonary fibrosis, scleroderma renal crisis, digital contractures, calcinosis, and acro-osteolysis (2).The etiology and pathogenesis of SSc is largely unknown. There is evidence of multifactorial genesis with interacting genetic, vascular, autoimmunological and metabolic factors (3,4). Genome-wide analysis showed a significant association of SSc with modifications of the fibrillin-1 gene and other genes involved in collagen metabolism. In skin and lung fibroblasts, collagen production is activated by transcription. Other candidate genes relate to HLA molecules and inflammation mediators, especially transforming growth factor β (TGF-β) and connective tissue growth factor (CTGF). Furthermore, a disturbed expression of metalloproteinases and their inhibitors has been described. An increased expression of cytokines and chemokines (IL-1, IL-4, TNF-α, IL-17, IL-21, MCP-1, MCP-2) can lead to an increased presence of immunological effector cells in the

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Immunopathogenesis of Juvenile Systemic Sclerosis

Cited by 33 publications

References 86 publications

Juvenile systemic sclerosis – observations of one clinical centre

Juvenile systemic sclerosis – observations of one clinical centre

The Role of Cutaneous Type I IFNs in Autoimmune and Autoinflammatory Diseases

Systemic sclerosis-associated pulmonary arterial hypertension in children

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