Objective: To estimate the capabilities of computed tomography (CT) in revealing the anatomic causes of restrictive lung changes in patients with pulmonary histiocytosis X.
Subject And Methods: The results of examining 36 patients with pulmonary histiocytosis X, who underwent comprehensive functional study of external respiration (CRSER), CT, and high-performance CT (HPCT), were analyzed.
Results: According to the results of CRSER, the authors identified a group of patients with restrictive ventilation disorders, which included 7 men and 1 woman. The most common cause of restrictive disorders was generalized fibrous changes in lung tissue, which fails to result in its expansion. Multiple cysts were another cause of restrictive disorders in 2 patients. Fusion of individual cysts into large ones and the formation of a great number of paradoxically ventilated cysts were the third cause of restrictive disorders in pulmonary histiocytosis X, which was identified during HPCT.
Conclusion: Comprehensive morphofunctional examination involving CRSER and high-resolution CT can reveal the unfavorable course of pulmonary histiocytosis X with the restrictive type of lesion.
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JAAD Case Rep
November 2024
Department of Dermatology, CHU Amiens-Picardie, Amiens, France.
Haematologica
January 2025
Sorbonne University, Internal Medicine Department 2, Institut E3M, French Reference Centre for Histiocytosis, Pitié-Salp trière.
Not available.
View Article and Find Full Text PDFRheumatology (Oxford)
January 2025
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.
View Article and Find Full Text PDFLangerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
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