Hashmi Hamza, Murray Drew, Greenwell John, Shaikh Marwan, Basu Soumit, Krem Maxwell
Division of Hematology and Oncology, University of Louisville, Louisville, KY, USA.
Division of Pathology and Laboratory Medicine, University of Louisville, Louisville, KY, USA.
Case Rep Hematol. 2018 May 16;2018:7865325. doi: 10.1155/2018/7865325. eCollection 2018.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocyte disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocyte infiltrates on biopsy with or without histiocytic infiltration of extraskeletal tissues. ECD can be difficult to diagnose since it is a very rare disease that can affect many organ systems. Diagnosis is based on the pathologic evaluation of involved tissue interpreted within the clinical context. Patients who have the BRAF V600E mutation are treated first line with vemurafenib. For those without the mutation with symptomatic ECD, conventional or PEGylated interferon alpha is recommended. For patients who are either intolerant or nonresponsive to interferon alpha, systemic chemotherapy with or without corticosteroids can be used. We present a rare case of Erdheim-Chester disease with concurrent Langerhans cell histiocytosis which occurs in only one fifth of the cases and often presents as a diagnostic and therapeutic challenge.
Erdheim-Chester病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，最常见的特征是长骨多灶性骨硬化性病变，活检显示有大量泡沫状组织细胞浸润，骨骼外组织可有或无组织细胞浸润。ECD可能难以诊断，因为它是一种非常罕见的疾病，可累及多个器官系统。诊断基于在临床背景下对受累组织的病理评估。携带BRAF V600E突变的患者一线治疗使用维莫非尼。对于无该突变的有症状ECD患者，推荐使用传统干扰素α或聚乙二醇化干扰素α。对于对干扰素α不耐受或无反应的患者，可使用联合或不联合皮质类固醇的全身化疗。我们报告了一例罕见的同时合并朗格汉斯细胞组织细胞增多症的Erdheim-Chester病，这种情况仅在五分之一的病例中出现，并且常常带来诊断和治疗挑战。
