Elbahoty Mohamed, Soror Nooran, Elnaggar Mona, Gad Samar M, Eldowik Yasser, Halwag Dalia I, Elghandour Ashraf, Youssef Ayman
Hematology Unit, Department of Internal Medicine, Alexandria University, Alexandria, EGY.
Department of Pathology, University of Alabama at Birmingham, Birmingham, USA.
Cureus. 2024 Dec 30;16(12):e76622. doi: 10.7759/cureus.76622. eCollection 2024 Dec.
Histiocytic disorders include a range of uncommon illnesses marked by the buildup of cells that have developed into macrophages, dendritic cells, or monocytes in diverse tissues and organs. Over 100 distinct subtypes have been documented, exhibiting a diverse array of clinical symptoms, presentations, and histologic features that can be confused with other clinical conditions leading to delayed diagnosis. They affect both children and adults, generating a variety of clinical symptoms that can be limited to one position, numerous areas within one system, or affect many systems in the body. We provide our experiences handling two cases of histiocytic disease in underdeveloped countries where targeted treatment choices are unavailable. The first patient was a 32-year-old female with polyuria, skin lesions, and macroadenoma on MRI. Histopathological and immune-histochemical assessment of skin lesions confirmed the diagnosis of Langerhans cell histiocytosis. The patient responded well to steroids and oral and intrathecal methotrexate. The second patient was a 38-year-old male with recurrent skin lesions followed by retro-orbital discomfort and proptosis. The retro-orbital mass was surgically excised followed by a recurrence a few months later. Histopathological and immune-histochemical assessment confirmed the diagnosis of extranodal Rosai-Dorfman disease. He showed a partial response to methotrexate followed by a remarkable response to rituximab. Because of the wide variety of clinical symptoms, the diversity of experts engaged in assessing and treating these patients, and the scarcity of cases accessible, there is still a need to develop an evidence-based technique for evaluating and treating this complicated disease, especially in resource-limited settings.
组织细胞疾病包括一系列罕见疾病，其特征是在不同组织和器官中出现已发育为巨噬细胞、树突状细胞或单核细胞的细胞堆积。已记录了100多种不同亚型，表现出各种各样的临床症状、表现和组织学特征，这些特征可能与其他临床情况混淆，导致诊断延迟。它们影响儿童和成人，产生各种临床症状，这些症状可能局限于一个部位、一个系统内的多个区域，或影响身体的多个系统。我们分享在欠发达国家处理两例组织细胞疾病的经验，这些国家没有针对性的治疗选择。首例患者为一名32岁女性，有多尿、皮肤病变，MRI显示有大腺瘤。皮肤病变的组织病理学和免疫组织化学评估确诊为朗格汉斯细胞组织细胞增多症。患者对类固醇以及口服和鞘内注射甲氨蝶呤反应良好。第二例患者为一名38岁男性，有复发性皮肤病变，随后出现眶后不适和眼球突出。眶后肿块经手术切除，几个月后复发。组织病理学和免疫组织化学评估确诊为结外Rosai-Dorfman病。他对甲氨蝶呤有部分反应，随后对利妥昔单抗有显著反应。由于临床症状多种多样、参与评估和治疗这些患者的专家各不相同，以及可获得的病例稀缺，仍然需要开发一种基于证据的技术来评估和治疗这种复杂疾病，尤其是在资源有限的环境中。
