Systemic sclerosis is a connective tissue disorder of unknown etiology. Although it is a multisystemic disorder, skin thickening is considered as a hallmark of the disease. It usually involves the lungs, gastrointestinal, and musculoskeletal systems. However, a rare subset of systemic sclerosis, systemic sclerosis sine scleroderma, is characterized by internal organ involvement and positive serologic markers with the total or partial absence of cutaneous manifestations. We present a rare association of osteopetrosis in a case of systemic sclerosis sine scleroderma, in a 22-year-old male patient, who presented with pulmonary symptoms as his chief complaints, unreported so far in literature.
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http://dx.doi.org/10.1055/s-0041-1740506 | DOI Listing |
ERJ Open Res
January 2025
Center for Pulmonary Vascular Biology and Medicine, Pittsburgh Heart, Lung and Blood Vascular Medicine Institute, Division of Cardiology, Department of Medicine, University of Pittsburgh School of Medicine and UPMC, Pittsburgh, PA, USA.
Background: Pulmonary arterial hypertension (PAH) is a deadly disease without effective non-invasive diagnostic and prognostic testing. It remains unclear whether vasodilators reverse inflammatory activation, a part of PAH pathogenesis. Single-cell profiling of inflammatory cells in blood could clarify these PAH mechanisms.
View Article and Find Full Text PDFCurr Cardiol Rep
January 2025
Onassis Cardiac Surgery Center, Athens, Greece.
Purpose Of Review: Our purpose was to discuss the advantages and disadvantages of various noninvasive imaging modalities in the evaluation of cardiovascular disease (CVD) in patients with autoimmune rheumatic diseases (ARDs). The detailed knowledge of imaging modalities will facilitate the diagnosis and follow up of CVD in ARDs.
Recent Findings: Autoimmune Rheumatic Diseases (ARDs) are characterized by alterations in immunoregulatory system of the body.
Clin Exp Rheumatol
January 2025
Department of Medicine, Division of Rheumatology, University of California, Los Angeles, USA.
Objectives: This structured, targeted literature review aimed to assess the mortality, humanistic and economic burden of eight organ manifestations which are commonly experienced by systemic sclerosis patients.
Methods: Identification of relevant literature was carried out by searching in Ovid MEDLINE and EMBASE, PubMed, and NHS Economic Evaluation Database in August 2023. Studies reporting original data on patients with systemic sclerosis with at least one of eight organ manifestations (interstitial lung disease and/or pulmonary hypertension, skin, peripheral vascular, musculoskeletal, gastrointestinal, cardiac or renal involvement) published within the last 15 years were included.
Background: Systemic sclerosis (SSc) is a rare connective tissue disease, frequently affecting the skin, lungs, and pulmonary vasculature. Approximately 30-50% of SSc patients develop interstitial lung disease (SSc-ILD), with 30-35% of related deaths attributed to it. Even though men are less likely to develop systemic sclerosis, they have a higher incidence of SSc-ILD than women, and they tend to develop it at a younger age with a higher mortality rate.
View Article and Find Full Text PDFJ Autoimmun
January 2025
Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China. Electronic address:
Regulatory T cell (Treg) play a pivotal role in immune regulation and maintaining host immune homeostasis. Treg heterogeneity, characterized by diverse gene expression profiles and functional states, is complex in both health and disease. Research reveals that Tregs are not a uniform population but exhibit diversity based on their origin, location, and functional status.
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