Rosai-Dorfman-Syndrom D76.3

Destombes, 1965; Dorfmann and Rosai, 1969

The frequency is not yet clear; it is assumed that viral infections could play a role. In Europe, Rosai-Dorfman syndrome is very rare; worldwide, people of black skin color are more frequently affected.

The etiology of sporadic Rosai-Dorfman disease is unclear. Viral infections and immunodeficiencies have been postulated.

The very rare familial form of the disease (only a few affected families have been reported) is caused by mutations in the SLC29A3 gene, which encodes a nucleoside transporter.

Integument: Skin lesions in about 20-30% of patients, making the skin the most commonly affected extranodal organ. Isolated or disseminated, red or yellow-brown, otherwise asymptomatic papules or nodules are found here. Isolated skin involvement is rare.

Extracutaneous manifestations: fever; massive lymphadenopathy of cervical lymph nodes, high ESR, leukocytosis with neutrophilia and hypergammaglobulinemia. Lymphadenopathy may occur in one or more lymph node groups. Of 358 cases of Destombes-Rosai-Dorfman disease recorded by Rosai in a disease registry, 87.3% had cervical lymphadenopathy. Less common is axillary, inguinal, and mediastinal lymphadenopathy. Histiocytic proliferates may also occur outside the lymph nodes. The most common localizations of extranodal disease in the Rosai registry, in addition to skin, were nasal cavity/sinuses, soft tissues, eyelid/orbita, bone, salivary glands, central nervous system, and heart. In this respect, the symptoms of this disease vary with the location of cell proliferation. For example, displacing growth in the skull may result in corresponding clinical sympotmia compared to cutaneous involvement where surgical excision is possible.

Dense, dermal, histiocytic (foam cells, giant cells) infiltrate mixed with lymphocytes and plasma cells. In places, nest-like aggregation of histiocytes resembling lymphoid sinuses.

Electron microscopy: Comma-shaped inclusions are seen in histiocytes.

In the new classification of the Histiocyte Society (see below Histiocytoses), cutaneous Rosai-Dorfman disease is assigned to the group of cutaneous non-Langerhans cell histiocytoses (C group). In contrast, spordaic (systemic) and familial Rosai-Dorfman disease forms its own group (R group) (Bruce-Brand C et al. 2020).

1. Bruce-Brand C et al (2020) Rosai-Dorfman disease: an overview. J Clin Pathol 73:697-705

2. Destombes PPL (1965) Adenitis with lipid overload in infants and young adults, four observations in the Antilles and Mali. Bulletin de La Société de Pathologie Exotique, 58: 1160-1171.
3. Rosai J, Dorfman RF (1969) Sinus histiocytis with massive lymphadenopathy. A newly recognized benign clinicopathological entity. Archives of Pathology (Chicago) 87: 63-70.
4. Rosai J, Dorfman RF (1974) Sinus histiocytosis with massive lymphadenopathy. a pseudolymphomatous benign disorder. Analysis of 34 cases. Cancer 30: 1174-1188
5. Foucar E, Rosai J, Dorfman RF (1988) Sinus histiocytis with massive lymphadenopathy; current status and future directions. Archives of Dermatology (Chicago) 124: 1211-1214
6. Foucar E, Rosai J, Dorfman R (1990) Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). Review of the entity. Sem Diagn Pathology 7: 19-73
7. Grabczynska SA et al (2001) Rosai-Dorfman disease complicated by autoimmune haemolytic anaemia: case report and review of a multisystem disease with cutaneous infiltrates. Br J Dermatol 145: 323-326.
8. Pitamber HV, Grayson W (2003) Five cases of cutaneous Rosai-Dorfman disease. Clin Exp Dermatol 28: 17-21
9. Pulsoni A et al (2002) Treatment of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of a case and literature review. Am J Hematol 69: 67-71
10. Quaglino P et al (1998) Immunohistologic findings and adhesion molecule pattern in primary pure cutaneous Rosai-Dorfman disease with xanthomatous features. Am J Dermatopathol 20: 393-398.