关键词: Adult xanthogranuloma Erdheim–Chester disease Histiocytosis Juvenile xanthogranuloma Langerhans cell histiocytosis Rosai–Dorfman disease

Mesh : Humans Histiocytosis / diagnosis Orbital Diseases / diagnosis etiology Histiocytes / pathology

来  源:   DOI:10.1007/s10792-024-03179-6

Abstract:
OBJECTIVE: Histiocytosis is one of the most challenging diseases in medical practice. Because of the broad spectrum of clinical manifestations, systemic involvements, unknown etiology, and complex management, different types of histiocytosis are still a big question mark for us. Orbital histiocytosis is characterized by the abnormal proliferation of histiocytes in orbital tissues. It could affect the orbit, eyelid, conjunctiva, and uveal tract. Orbital histiocytosis can cause limited eye movement, proptosis, decreased visual acuity, and epiphora. In this study, we review the novel findings regarding the pathophysiology, diagnosis, and treatment of different types of histiocytosis, focusing on their orbital manifestations.
METHODS: This review was performed based on a search of the PubMed, Scopus, and Embase databases or relevant published papers regarding orbital histiocytosis on October 9th, 2023. No time restriction was proposed, and articles were excluded if they were not referenced in English.
RESULTS: 391 articles were screened, most of them being case reports. The pathophysiology of histiocytosis is still unclear. However, different mutations are found to be prevalent in most of the patients. The diagnostic path can be different based on various factors such as age, lesion site, type of histiocytosis, and the stage of the disease. Some modalities, such as corticosteroids and surgery, are used widely for treatment. On the other hand, based on some specific etiological factors for each type, alternative treatments have been proposed.
CONCLUSIONS: Significant progress has been made in the detection of somatic molecular changes. Many case studies describe various disease patterns influencing the biological perspectives on different types of histiocytosis. It is necessary to continue investigating and clustering data from a broad range of patients with histiocytosis in children and adults to define the best ways to diagnose and treat these patients.
摘要:
目的:组织细胞增生症是医学实践中最具挑战性的疾病之一。由于临床表现广谱,系统性参与,病因不明,复杂的管理,不同类型的组织细胞增生症对我们来说仍然是一个很大的问号。眼眶组织细胞增生症的特征是眼眶组织中组织细胞的异常增殖。它可能会影响轨道,眼睑,结膜,和葡萄膜。眼眶组织细胞增生症可导致眼球运动受限,突增,视力下降,和顿唇.在这项研究中,我们回顾了关于病理生理学的新发现,诊断,以及不同类型组织细胞增生症的治疗,专注于它们的轨道表现。
方法:这篇综述是基于对PubMed,Scopus,10月9日Embase数据库或有关眼眶组织细胞增生症的相关论文,2023年。没有提出时间限制,如果文章没有用英语引用,则将其排除在外。
结果:筛选了391篇文章,其中大多数是病例报告。组织细胞增生症的病理生理学仍不清楚。然而,发现不同的突变在大多数患者中普遍存在。诊断路径可以根据各种因素而不同,例如年龄,病变部位,组织细胞增生症的类型,和疾病的阶段。一些模式,比如皮质类固醇和手术,广泛用于治疗。另一方面,基于每种类型的一些特定病因,已经提出了替代治疗方法。
结论:在检测体细胞分子变化方面取得了重大进展。许多案例研究描述了影响不同类型组织细胞增生症生物学观点的各种疾病模式。有必要继续调查和聚类来自广泛的儿童和成人组织细胞增生症患者的数据,以确定诊断和治疗这些患者的最佳方法。
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