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A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFAsymptomatic pink nodules in an African-American woman.
JAAD Case Rep
February 2025
Dermatology Department, NYC Health + Hospital/Metropolitan, New York, New York.
Confocal Reflectance Microscopy Findings in Juvenile Xanthogranuloma: Report of 2 Cases.
Pediatr Dermatol
January 2025
Department of Dermatology, University of new Mexico School of Medicine, Albuquerque, New Mexico, USA.
Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis and is characterized by a benign proliferation of dermal dendrocytes. We report two children diagnosed with JXG with reflectance confocal microscopy (RCM), a noninvasive imaging technology that allows for multi-layer visualization of the skin. This report demonstrates the emerging role of RCM as a painless diagnostic aid for JXG and other cutaneous diseases in children.
View Article and Find Full Text PDFCutaneous Intertriginous Langerhans Cell Histiocytosis in Adults: A Case Report and Systematic Review.
J Low Genit Tract Dis
January 2025
Saint Louis University School of Medicine, St. Louis, MO.
Objective: Authors characterized all published adult cases of cutaneous, intertriginous Langerhans cell histiocytosis (LCH) to bring this clinical presentation to the attention of clinicians. We emphasize the morphology, histopathology, immunohistochemical profiles, and genetic mutations associated with these cases.
Materials And Methods: A systematic review of the National Center for Biotechnology Information's PubMed was conducted, utilizing the following specific key words to identify all adult LCH patients with cutaneous intertriginous involvement: "Intertriginous Langerhans," "Vulvar Langerhans," "Genital Langerhans," "Perineal Langerhans," "Perianal Langerhans," "Intergluteal Langerhans," "Inguinal Langerhans," "Axillary Langerhans," and "Inframammary Langerhans.
Erdheim Chester Disease with Calvarial Involvement: A rare case of Histiocytosis.
Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
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