Rosai–Dorfman Disease

Abstract

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a benign proliferative disorder of histiocytes with an unknown etiology. It is a rare disease characterized by overproduction and accumulation of histiocytes within lymph node sinuses and many other extranodal sites, including skin, oral and nasal cavities, respiratory tract, eyelid, and periorbital area. In this case, a 44-year-old woman with diagnosis of Rosai-Dorfman disease, with xanthelasma-like cutaneous lesions on facial area, extending to her neck and acneiform papules on her back, cervical lymph node involvement, and concomitant presence of diabetes insipidus was presented. Histopathological examination of the lesions demonstrated diffuse lymphocyte, plasmocyte, eosinophil, and sparse neutrophil infiltration, together with histiocytes showing phagocytosed inflammatory cells (emperipolesis). Histiocytes demonstrated immunoreactivity with the antibodies for CD68 and S100, whereas they were negative for CD1a and Langerin. Laboratory tests were normal, except mild immunoglobulin G hypergammaglobulinemia. Systemic methylprednisolone therapy was effective for cutaneous lesions.

Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease

“…1,4,6,7 Our patient exhibited a typical semiologic aspect of CRDD: a plaque, surrounded by satellite papules, and other clinical aspects commonly observed in CRDD, the multiplicity and combination of distinct lesions, and their tendency toward regression and recurrence. 4,7 However, these clinical and evolutive features, albeit characteristic of CRDD, are seldom evocative of the diagnosis, which in this case was initially thought to be Kaposi's sarcoma. The absence of systemic/extracutaneous signs and symptoms, as documented in our patient, although essential for the diagnosis of CRDD, further rendered the clinical picture unspecific.…”

“…However, virus expression is inconsistently identified in nodal disease and has not yet been conclusively identified in CRDD; ii) RDD may be part of the spectrum of IgG4-related disease, based on recent reports and case series showing an increased number of IgG4 positive plasma cells. 1,4,6,7,8,9 However, there is no clear evidence to support this hypothesis, and a large number of conditions outside the IgG4-related disease spectrum can be associated with an increased number of IgG4-positive plasma cells; iii) RDD may belong to a spectrum of disorders with SLC29A3 mutations, namely H syndrome. 10 The evidence of a germline mutation in SLC29A3 in patients with familial RDD, as well as the finding of emperipolesis in cutaneous lesions of H syndrome would support this hypothesis, but this association has not been demonstrated in the cutaneous forms of the disease.…”

“…CRDD, contrarily, is typically self-limiting, does not require aggressive treatments, and it generally remains confined to the skin despite frequently running a recurrent course. 5,4,12 …”

“…1,3,4 More rarely, cutaneous lesions are the sole manifestation, with purely cutaneous-RDD (CRDD) representing a small minority (3%) of RDD described cases. 1,3,4 CRDD is considered a distinct entity, based on the exclusive involvement of the skin, different demographic features and better prognosis, compared with systemic RDD. 4,5 …”

“…1,3,4 CRDD is considered a distinct entity, based on the exclusive involvement of the skin, different demographic features and better prognosis, compared with systemic RDD. 4,5 …”