A meta-analysis of cases of Rosai Dorfman disease reported on the African continent and a description of two cases from a tertiary academic hospital in Johannesburg, South Africa

Abstract

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 and 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 to 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 too 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.