Rosai-Dorfman Disease
Faisal Alseraye, MD
L. Jeffrey Medeiros, MD
Key Facts
Terminology
Rosai-Dorfman disease (RDD) and sinus histiocytosis with massive lymphadenopathy are equivalent terms
Etiology/Pathogenesis
Unknown; histologic features are suggestive of virus
Clinical Issues
Spontaneous regression occurs in most patients
No specific therapy required
Macroscopic Features
Large, often massive lymph nodes
Often matted with capsular fibrosis
Microscopic Pathology
Lymph nodes show dilated sinuses
Associated small lymphocytes and plasma cells
RDD histiocytes characterized by
Abundant eosinophilic cytoplasm
Central vesicular nucleus
Small but distinct, central nucleolus
Emperipolesis
In extranodal sites
Emperipolesis often focal or absent
Ancillary Tests
Immunohistochemistry
S100(+), CD1a(-)
Top Differential Diagnoses
Langerhans cell histiocytosis
Chronic granulomatous inflammation
Metastatic neoplasms to lymph node sinuses
Anaplastic large cell lymphoma
 Touch imprint of lymph node involved by Rosai-Dorfman disease. Numerous histiocytes with emperipolesis and small lymphocytes are present. The histiocytes show emperipolesis, particularly prominent in some cells  . |
 Lymph node involved by Rosai-Dorfman disease (RDD). S100 stain highlights the cytoplasm of RDD histiocytes. S100 negatively outlines intracytoplasmic lymphocytes  in cells with emperipolesis. |
TERMINOLOGY
Abbreviations
Rosai-Dorfman disease (RDD)
Synonyms
Sinus histiocytosis with massive lymphadenopathy (SHML)
Histiocytose lipidique ganglionnaire pseudotumorale de Destombes
Definitions
Benign proliferation of histiocytes with characteristic cytologic features
Histiocytes show emperipolesis (engulfment of lymphocytes)
Histiocytes express S100
ETIOLOGY/PATHOGENESIS
Unknown
RDD has been reported in identical twins or families suggesting genetic predisposition
Associated with autoimmune lymphoproliferative syndrome
CLINICAL ISSUES
Epidemiology
Incidence
Rare; worldwide geographic distribution
Age
Wide range
Newborn to ˜ 75 years; more common in children
Gender
M:F = 3:2 (1.5)
Ethnicity
All races affected
Site
Lymph nodes
Extranodal sites in ˜ 40% of patients
Head and neck region common
Upper respiratory tract, skin
Other common sites
Skin, soft tissues, gastrointestinal tract
Bones, breast, dura
Almost any site can be involved
Presentation
Lymphadenopathy, often without any symptoms
Usually localized
Cervical lymph nodes most often involved
Often bilateral with massive enlargement
B symptoms are uncommon but can occur
Fever, night sweats can precede lymphadenopathy
Laboratory abnormalities in subset of patients
Polyclonal hypergammaglobulinemia common
Blood lymphocytes with low CD4 to CD8 ratio
Hemolytic anemia
Treatment
In most patients, RDD regresses spontaneously
No specific therapy needed
RDD often persists for months before regression
Rarely RDD can persist for years before regression
Rare subset of patients have aggressive RDD and require therapy
Therapies: Steroids, radiation therapy, chemotherapy
Surgical excision for patients with obstruction/compression-type symptoms
Prognosis
Excellent for most affected patients
Rare cases can be clinically aggressive
No effective therapy for these rare aggressive cases
Fatalities can occur as a result of
Accompanying immune dysregulation
Mass effect in vital organs
IMAGE FINDINGS
Radiographic Findings
Lymphadenopathy
MACROSCOPIC FEATURES
General Features
Enlarged lymph nodes: Often massive
Often matted with capsular fibrosis
MICROSCOPIC PATHOLOGY
Histologic Features
Lymph nodes
Overall lymph node architecture is intact but distorted
Marked dilatation of sinuses
Filled with RDD histiocytes
Associated with small lymphocytes and plasma cells
Granulocytes not present, unless superimposed necrosis or infection
RDD histiocytes show emperipolesis
Engulf cells that become located in histiocyte cytoplasm
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