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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 PDFExtensive Sclerotic Skin Involvement in Erdheim-Chester Disease.
QJM
December 2024
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College.
Erdheim-Chester Disease: A Case Report Exploring Multisystemic Involvement.
Cureus
November 2024
Neuroradiology, Unidade Local de Saúde Vila Nova de Gaia | Espinho, Vila Nova de Gaia, PRT.
Erdheim-Chester disease (ECD) is a rare, multisystemic, non-Langerhans cell histiocytic neoplasm predominantly affecting middle-aged males in their fifth to seventh decades of life. It often presents with nonspecific symptoms, leading to a delay in its diagnosis. We report a case of an 85-year-old male with multisystemic manifestations, including retroperitoneal, skeletal, vascular, cardiac, orbital, and central nervous system (CNS) involvement.
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