Department of Medicine Clinical Haematology Unit, Chris Hani Baragwanath Academic Hospital and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Department of Medicine, Charlotte Maxeke Academic Hospital and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Pan Afr Med J. 2023 Jul 18;45:130. doi: 10.11604/pamj.2023.45.130.40709. eCollection 2023.
Rosai-Dorfman-Destombes disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by the accumulation of activated histiocytes within affected tissues. The original haematopathological description of RDD has links to the late South African born haematopathologist, Ronald Dorfman, with a descriptive account of two cases of the disease treated at Chris Hani Baragwanath Academic Hospital are described herein. Alongside the two case descriptions is a meta-analysis of 149 published cases from the African continent. Sequential literature searches were performed on Google Scholar and PubMed with the search terms "sinus histiocytosis with massive lymphadenopathy", "Rosai-Dorfman disease", "Rosai-Dorfman Destombes" and "lymphadenopathy" together with the name of each individual country on the African continent, from Algeria to Zimbabwe. All possible cases of RDD reported in published literature from Africa were captured on a Microsoft Excel spreadsheet recording details, where available, of demographics, nodal (nodal groups) or extra-nodal disease as well as treatment. Of the 54 African countries on the continent, published data was available from half of these countries (n=27). Nigeria (35), Tunisia (25) and South Africa (23) contributed the majority of cases for data collection with a clear paucity of reportable information available from Central Africa. Of the 149 cases from the African continent, the majority were from patients aged ten years and younger with a decrease in reported cases in patients with increasing age. The mean age at diagnosis was 25.66 years [95% CI: 21.81-29.51] with a median age of diagnosis of 24.5 years. The youngest patient in the series was 3 months old and the oldest patient aged 72 (range 71.75 years, IQR 31). The cases reported were fairly split between males and females with a male-to-female ratio of 1.07: 1. HIV seropositivity was reported in seven patients (4.8%) and no HIV results were available in 104 patients (71.2%). Disease presentation was split between nodal disease in 43% of patients (n=64), Extra nodal (EN) disease in 32.9% (n=32), mixed (nodal/EN) disease in 11.4% (n=17) and unknown in 12.8% (n=19). Fever was present in 18.1% (n=27) of cases. Hepatic enlargement was noted in nine patients (6%) and splenic enlargement in four patients (2.7%). Commonly ascribed sites of EN disease, in descending order, were skin and soft tissue, ocular, ear/nose/throat (ENT), abdominal organ(s), bone, lung/pleura, brain parenchyma (including dura), endocrine glands, spine, breast, pericardium, pseudotumour formation (unspecified site), joint(s), peripheral nerves and genitourinary tract disease. The upfront administration of glucocorticosteroids was seen in the majority of cases. Rosai-Dorfman-Destombes, although a rare disorder, should be considered as a differential diagnosis in patients with massive bilateral cervical lymphadenopathy and is confirmed with accompanying pathological changes on microscopic and immunohistochemical examination of biopsy specimens. The role of infection, particularly HIV infection, is considered to be a possible contributor to the pathogenesis of RDD and HIV testing in patients from areas of high HIV endemicity with co-existing RDD should be undertaken. Consideration for mycobacterium tuberculosis infection in patients with generalized significant lymphadenopathy still remains an important differential for massive lymphadenopathy and requires confirmation by appropriate microbiological investigations. The treatment landscape in RDD is limited in many resource-poor settings, with the upfront use of glucocorticosteroids employed routinely in the majority of cases.
罗道尔夫-多夫曼-德斯汤贝斯病 (RDD) 是一种罕见的非朗格汉斯细胞组织细胞增生症,其特征是受影响组织中活化的组织细胞积聚。RDD 的原始血液病理学描述与南非出生的血液病理学家罗纳德·多夫曼有关,本文描述了克里斯·哈尼·巴哈加万萨医院治疗的两例该病病例。除了这两个病例描述外,还对来自非洲大陆的 149 例已发表病例进行了荟萃分析。在 Google Scholar 和 PubMed 上进行了连续的文献检索,检索词为“窦组织细胞增生伴巨大淋巴结病”、“罗道尔夫-多夫曼病”、“罗道尔夫-多夫曼-德斯汤贝斯”和“淋巴结病”,以及非洲大陆每个国家的名称。在微软 Excel 电子表格上记录了发表文献中报告的所有可能的 RDD 病例,记录了病例的详细信息,如有可能,还记录了患者的人口统计学、淋巴结(淋巴结组)或结外疾病以及治疗情况。在非洲大陆的 54 个国家中,有一半国家(n=27)有已发表的数据。尼日利亚(35)、突尼斯(25)和南非(23)提供了大多数病例数据,而来自中非的报告信息明显不足。在来自非洲大陆的 149 例病例中,大多数病例发生在 10 岁及以下的患者中,随着患者年龄的增加,报告的病例数量逐渐减少。诊断时的平均年龄为 25.66 岁[95%CI:21.81-29.51],中位数为 24.5 岁。该系列中年龄最小的患者为 3 个月,年龄最大的患者为 72 岁(年龄范围为 71.75 岁,IQR 为 31)。报告的病例在男性和女性之间大致平分,男女性别比为 1.07:1。7 例患者(4.8%)HIV 血清阳性,104 例患者(71.2%)HIV 结果不可用。疾病表现为淋巴结疾病 43%(n=64),结外(EN)疾病 32.9%(n=32),混合(淋巴结/EN)疾病 11.4%(n=17),未知疾病 12.8%(n=19)。18.1%(n=27)的病例存在发热。9 例患者(6%)肝肿大,4 例患者(2.7%)脾肿大。常见的结外疾病部位依次为皮肤和软组织、眼部、耳鼻喉(ENT)、腹部器官、骨骼、肺/胸膜、脑实质(包括硬脑膜)、内分泌腺体、脊柱、乳房、心包、假性肿瘤形成(未指定部位)、关节、周围神经和泌尿生殖道疾病。大多数病例开始使用糖皮质激素治疗。罗道尔夫-多夫曼-德斯汤贝斯病虽然是一种罕见疾病,但在双侧颈淋巴结肿大的患者中应考虑作为鉴别诊断,并通过活检标本的显微镜和免疫组织化学检查伴随的病理变化来确认。感染,特别是 HIV 感染,被认为可能是 RDD 发病机制的一个可能因素,在 HIV 流行地区伴有 RDD 的患者中应进行 HIV 检测。在患有广泛显著淋巴结病的患者中,仍应考虑分枝杆菌结核感染作为巨大淋巴结病的重要鉴别诊断,需要通过适当的微生物学检查进行确认。在许多资源匮乏的环境中,RDD 的治疗方案有限,大多数情况下都常规使用糖皮质激素进行初始治疗。