Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease

Abstract

Rosai-Dorfman-Destombes disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by accumulation of activated histiocytes within affected tissues. RDD, which now belongs to the R group of the 2016 revised histiocytosis classification, is a widely heterogeneous entity with a range of clinical phenotypes occurring in isolation or in association with autoimmune or malignant diseases. Recent studies have found ,, , and mutations in lesional tissues, raising the possibility of a clonal origin in some forms of RDD. More than 1000 reports have been published in the English literature; however, there is a lack of consensus regarding approach for the clinical management of RDD. Although in most cases RDD can be observed or treated with local therapies, some patients with refractory or multifocal disease experience morbidity and mortality. Here we provide the first consensus multidisciplinary recommendations for the diagnosis and management of RDD. These recommendations were discussed at the 32nd Histiocyte Society Meeting by an international group of academic clinicians and pathologists with expertise in RDD. We include guidelines for clinical, laboratory, pathologic, and radiographic evaluation of patients with RDD together with treatment recommendations based on clinical experience and review of the literature.

Rosai‐Dorfman disease in Malawi

“…Our case currently indicates features of complete remission following surgical excision and tapering steroid doses, in line with most reported cases of RDD …”

“…However, patients may require longterm follow-up due to the variable clinical course. 6,7 Our case currently indicates features of complete remission following surgical excision and tapering steroid doses, in line with most reported cases of RDD. 5,6,8 Although our case presented with singular lymph node disease, common extranodal sites are skin, central nervous system, orbit and eyelid, upper respiratory tract, and gastrointestinal tract.…”

“…6,7 Our case currently indicates features of complete remission following surgical excision and tapering steroid doses, in line with most reported cases of RDD. 5,6,8 Although our case presented with singular lymph node disease, common extranodal sites are skin, central nervous system, orbit and eyelid, upper respiratory tract, and gastrointestinal tract. 3,9,10 Other, less common extranodal sites include the thyroid gland, breast, meninges, and spinal cord, with most spinal cord involvement presenting as focal extradural masses although intramedullary and intradural masses have been reported.…”

“…Rosai‐Dorfman Disease is rarely progressive and typically follows a disease course of alternating periods of exacerbations and resolutions. However, patients may require long‐term follow‐up due to the variable clinical course …”

A facial nodule

“…NRAS, KRAS, MAP2K1 and ARAF mutations have been described, suggesting a clonal origin. 6 Viral infections such as Epstein-Barr virus, cytomegalovirus and HIV have been associated, but a clear link has not been proven. 6 Histologically, RDD is characterized by a distinctive proliferation of large, polygonal, S100-positive histiocytes with a mixed chronic inflammatory infiltrate and prominent emperipolesis.…”