Kanza Rene Epunza, Houle Olivier, Simard Pierre-Luc, St-Gelais Jonathan, Raymond Catherine
Department of Radiology, Chicoutimi Hospital, 305 Rue Saint-Vallier, Saguenay, QC G7H5H6, Canada.
Faculty of Medicine, University of Sherbrooke, Saguenay, QC, Canada.
Radiol Case Rep. 2021 Dec 16;17(3):525-530. doi: 10.1016/j.radcr.2021.11.056. eCollection 2022 Mar.
Erdheim-Chester disease is a rare multisystemic non-Langerhans histiocytosis characterized by histiocytes that stain positive for CD68 and negative for CD1a. Skeletal involvement is reported to be present in up to 96% cases and mutation in about half of the cases. Here, we report a patient with an unusual longstanding BRAF-negative Erdheim-Chester disease without bone lesions who developed pleuropulmonary and cardiac involvement.
厄尔德里姆-切斯特病是一种罕见的多系统非朗格汉斯组织细胞增多症，其特征为组织细胞CD68染色阳性而CD1a染色阴性。据报道，高达96%的病例存在骨骼受累，约一半的病例存在基因突变。在此，我们报告一例患有罕见的长期BRAF阴性厄尔德里姆-切斯特病的患者，该患者无骨病变，但出现了胸膜肺和心脏受累。
