Ding Yingying, Chen Shanshan, Huang Guinian, Guo Xiaojuan
Department of Hematology, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
Department of Critical Care Medicine, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.
Cytojournal. 2024 Nov 29;21:59. doi: 10.25259/Cytojournal_174_2024. eCollection 2024.
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are exceptionally rare disorders characterized by varied clinical presentations, posing several challenges for clinicians. The concomitant occurrence of LCH and ECD is exceedingly rare and has no known etiology. In this report, we present a rare case of mixed histiocytosis (both ECD and LCH) with multisystem involvement. The patient, a 49-year-old female, initially presented with a rash 2 years ago and progressively developed exophthalmos, fatigue, and shortness of breath. She lacked the mutation in codon 600 of exon 15 of B-Raf proto-oncogene (BRAF-V600E) and subsequently underwent treatment with corticosteroids, interferon-alpha, and chemotherapy, all of which proved ineffective. This work highlights the urgent need to improve treatment outcomes for such patients. Therefore, we discuss the latest advancements in understanding treatment strategies for mixed histiocytic syndromes.
朗格汉斯细胞组织细胞增多症（LCH）和厄尔德海姆-切斯特病（ECD）是极为罕见的疾病，临床表现多样，给临床医生带来了诸多挑战。LCH和ECD同时出现极为罕见，且病因不明。在本报告中，我们呈现了一例罕见的多系统受累的混合性组织细胞增多症（ECD和LCH）病例。该患者为一名49岁女性，最初于2年前出现皮疹，随后逐渐出现眼球突出、疲劳和呼吸急促。她的B-Raf原癌基因（BRAF-V600E）第15外显子600密码子无突变，随后接受了皮质类固醇、α干扰素和化疗，但均无效。这项工作凸显了改善此类患者治疗效果的迫切需求。因此，我们讨论了混合性组织细胞综合征治疗策略的最新进展。
