• Atsushi Matsunashi, Wang Zhipeng, Akihiko Sugimoto, Masakazu Fujimoto, Akihiko Yoshizawa, Ryo Sakamoto, Michihiro Uyama, Kohei Ikezoe, Kiminobu Tanizawa, Tomohiro Handa, and Toyohiro Hirai.
• Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Japan.
• Intern. Med. 2024 Nov 28.

AbstractErdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, characterized by the infiltration of disease-specific foamy histiocytes, polymorphic granulomas, and fibrosis. Although cardiovascular involvement is observed radiologically in approximately half of ECD patients, only a few reports have described its pathological features. We herein report the autopsy of an ECD patient with pulmonary, cardiovascular, and retroperitoneal involvement that may have caused his death. Autopsy revealed the pathological association of coronary and renal arterial stenosis with the BRAFV600E gene mutation. BRAF mutations should be considered in patients with ECD, especially in those with arterial lesions.

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