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Background: Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare interstitial lung disease primarily affecting young to middle-aged smokers. While traditionally linked to tobacco use, there is growing evidence that cannabis use may contribute to PLCH.
Methods: We present a case of a 52-year-old male with PLCH associated with heavy cannabis use.
A case of pulmonary ALK-positive histiocytosis combined with Birt-Hogg-Dubé syndrome carrying an gene fusion: a case report and literature review.
Front Immunol
January 2025
Department of Pathology, Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hosipital, Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University, Taiyuan, China.
In this article, we report the first case of a 61-year-old woman who was diagnosed with both nodules and cystic lesions in her lungs. The lung nodules were diagnosed as ALK-positive histiocytosis (APH) carrying an gene fusion, which microscopically displayed a mixed morphology of foamy cells, spindle cells, and Touton's giant cells. Immunohistochemistry showed expression of CD163, CD68, and ALK, while fluorescence hybridization (FISH) with second-generation sequencing (NGS) showed the ALK gene fusion with the FLCN gene variant.
View Article and Find Full Text PDFPrevalence of Gastroesophageal Reflux in Interstitial Lung Diseases Clinic.
Cureus
December 2024
Pulmonology, Jinnah Postgraduate Medical Centre, Karachi, PAK.
Background Interstitial lung diseases (ILDs) are a group of non-infectious diseases characterized by interstitial inflammation and fibrosis on histological examination. Gastroesophageal reflux disease (GERD) is common in this patient population, but whether there is a causal or coincidental relationship is not yet clear. It still remains unsettled how to diagnose GERD, and the role of different treatment modalities for GERD, in these lung disorders.
View Article and Find Full Text PDFA 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 PDFConfocal 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.
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