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Histiocytosis are caused by pathogenic myeloid cells, and can be classified as Langerhans cell histiocytosis (LCH) and non-LCH. Erdheim-Chester disease (ECD) is a non-LCH, characterized by multi-organ involvement, typical imaging findings, and confirmatory histological studies. A case with multi-organ involvement and histological confirmation is presented.
View Article and Find Full Text PDFErdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.
Dis Mon
January 2025
Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Vidya Vihar, Raebareli Road, Lucknow-226025, (U.P.), India. Electronic address:
Erdheim-Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology.
View Article and Find Full Text PDFNon-Langerhans cell histiocytosis in a patient with an acute myelogenous leukemia relapse: A case report.
Int J Dermatol
January 2025
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
Multicentric Reticulohistiocytosis.
Skinmed
January 2025
Department of Dermatology, Temple University Lewis Katz School of Medicine, Philadelphia, PA;
A Caucasian woman in her twenties having asymptomatic papules on the hands for the past 6 months was referred by rheumatology for a skin biopsy. The patient had presented to rheumatologist for arthralgia. On physical examination, multiple, dull red, 2-5-mm papules were observed on her dorsal fingers, with most in the periungual regions.
View Article and Find Full Text PDFDeficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis.
Sci Rep
January 2025
MSD R&D Innovation Centre, 120 Moorgate, London, EC2M 6UR, UK.
Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann-Pick Disease Type C (NPC), a lysosomal storage disorder. Metabolic and homeostatic mechanisms are disrupted in lysosomal storage disorders (LSDs) hence we characterized a cellular model of NPC2 knock out, to assess alterations in organellar function and inter-organellar crosstalk between mitochondria and lysosomes. We performed characterization of lipid alterations and confirmed altered lysosomal morphology, but no overt changes in oxidative stress markers.
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