Abstract：
OBJECTIVE: Within the large umbrella of histiocytosis are a few similar yet heterogenous entities involving the orbit and periocular tissues with or without systemic infiltration, termed adult onset xanthogranuloma or orbital xanthogranuloma. Due to rarity of these conditions, different classifications in use, diverse clinical presentations and still unknown etiology, the aim of this paper was to provide an up-to-date literature review of the actual understanding of histiocytosis and its subgroups involving the orbit and periocular area, diagnostic strategies and therapeutic modalities.
METHODS: We present a review of literature and small case series comprising four patients diagnosed and treated in the period from 2001 until 2023 in our hospital. Clinical files of 4 patients with adult-onset xanthogranulomatous disease of the orbit and ocular adnexa (AOXGD) were reviewed retrospectively. Clinical, laboratory, radiological, histopathological, and immunohistochemical findings were reexamined.
RESULTS: Reviewing medical records of our patients with AOXGD, we found significant overlap between histiocytosis and different immune disorders. A broad workup should be considered in these patients as they can harbour severe immune disfunctions and hematologic disorders. Preferred treatment modality depends on a histopathologic type of AOXGD, clinical presentation and systemic involvement and should be conducted multidisciplinary.
CONCLUSIONS: The diagnosis is often delayed because of its rarity and diverse clinical findings. Development of molecular genetic tests, detection of BRAF V600E mutation and different types of kinase mutations, mutations in transcriptional regulatory genes as well as tyrosine kinase receptors have shed a new light on the etiopathogenesis and potential targeted treatment of histiocytosis.
METHODS: We present a review of literature and small case series comprising four patients diagnosed and treated in the period from 2001 until 2023 in our hospital. Clinical files of 4 patients with adult-onset xanthogranulomatous disease of the orbit and ocular adnexa (AOXGD) were reviewed retrospectively. Clinical, laboratory, radiological, histopathological, and immunohistochemical findings were reexamined.
RESULTS: Reviewing medical records of our patients with AOXGD, we found significant overlap between histiocytosis and different immune disorders. A broad workup should be considered in these patients as they can harbour severe immune disfunctions and hematologic disorders. Preferred treatment modality depends on a histopathologic type of AOXGD, clinical presentation and systemic involvement and should be conducted multidisciplinary.
CONCLUSIONS: The diagnosis is often delayed because of its rarity and diverse clinical findings. Development of molecular genetic tests, detection of BRAF V600E mutation and different types of kinase mutations, mutations in transcriptional regulatory genes as well as tyrosine kinase receptors have shed a new light on the etiopathogenesis and potential targeted treatment of histiocytosis.
摘要：
目的：在组织细胞增生症的大范围内，有一些类似但不均匀的实体，涉及眼眶和眼周组织，有或没有全身浸润，称为成人发作性黄色肉芽肿或眼眶黄色肉芽肿。由于这些条件的罕见，使用中的不同分类，不同的临床表现和仍然未知的病因，本文的目的是提供有关组织细胞增生症及其涉及眼眶和眼周区域的亚组的实际理解的最新文献综述，诊断策略和治疗方式。
方法：我们回顾了文献和小型病例系列，包括2001年至2023年期间在我们医院诊断和治疗的四名患者。回顾性分析了4例成人眼眶黄色肉芽肿病（AOXGD）患者的临床资料。临床,实验室,放射学,组织病理学,和免疫组织化学结果进行了重新检查。
结果：查看我们的AOXGD患者的医疗记录，我们发现组织细胞增生症和不同免疫疾病之间存在显著重叠.应考虑对这些患者进行广泛的检查，因为他们可能患有严重的免疫功能障碍和血液系统疾病。优选的治疗方式取决于AOXGD的组织病理学类型，临床表现和系统参与，应进行多学科。
结论：由于其稀有性和不同的临床表现，诊断通常会延迟。分子遗传测试的发展，检测BRAFV600E突变和不同类型的激酶突变，转录调节基因和酪氨酸激酶受体的突变为组织细胞增生症的病因和潜在的靶向治疗提供了新的思路。
方法：我们回顾了文献和小型病例系列，包括2001年至2023年期间在我们医院诊断和治疗的四名患者。回顾性分析了4例成人眼眶黄色肉芽肿病（AOXGD）患者的临床资料。临床,实验室,放射学,组织病理学,和免疫组织化学结果进行了重新检查。
结果：查看我们的AOXGD患者的医疗记录，我们发现组织细胞增生症和不同免疫疾病之间存在显著重叠.应考虑对这些患者进行广泛的检查，因为他们可能患有严重的免疫功能障碍和血液系统疾病。优选的治疗方式取决于AOXGD的组织病理学类型，临床表现和系统参与，应进行多学科。
结论：由于其稀有性和不同的临床表现，诊断通常会延迟。分子遗传测试的发展，检测BRAFV600E突变和不同类型的激酶突变，转录调节基因和酪氨酸激酶受体的突变为组织细胞增生症的病因和潜在的靶向治疗提供了新的思路。
