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The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFLeflunomide-induced drug reaction eosinophilia systemic symptoms and haemophagocytic lymphohistiocytosis overlap syndrome with rheumatoid arthritis.
BMJ Case Rep
January 2025
Department of Infectious Diseases, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical manifestations. We present a case of a woman in her late 40s with rheumatoid arthritis who developed DRESS/HLH overlap syndrome after starting hydroxychloroquine and leflunomide therapy. Despite corticosteroid treatment, her condition worsened, necessitating etoposide therapy.
View Article and Find Full Text PDFAnaphylaxis definition, overview, and clinical support tool: 2024 consensus report.
J Allergy Clin Immunol
January 2025
Division of Allergy & Immunology, Icahn School of Medicine at Mount Sinai; New York, NY, USA.
Background: The 2006 National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network (NIAID/FAAN) anaphylaxis criteria are widely used in clinical care and research. In 2020, the World Allergy Organization (WAO) published modified criteria that have not been uniformly adopted. Different criteria contribute to inconsistent care and research outcomes.
View Article and Find Full Text PDFVaccine-Induced Annular Atrophic Lichen Planus.
Mil Med
January 2025
Dermatology Residency Program, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.
Annular atrophic lichen planus (AALP) is a chronic subtype of lichen planus that classically does not respond to treatment with topical steroids. An inflammatory reaction in the dermal infiltrate may play a role in the development of AALP, but the exact pathogenesis remains unclear. We present the case of a 54-year-old-female with lesions on her trunk and extremities that developed following vaccination.
View Article and Find Full Text PDFSphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment.
J Cell Biol
April 2025
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Sphingolipids serve as building blocks of membranes to ensure subcellular compartmentalization and facilitate intercellular communication. How cell type-specific lipid compositions are achieved and what is their functional significance in tissue morphogenesis and maintenance has remained unclear. Here, we identify a stem cell-specific role for ceramide synthase 4 (CerS4) in orchestrating fate decisions in skin epidermis.
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