Rosai-Dorfman Disease



Rosai-Dorfman Disease


Elizabeth A. Montgomery, MD





Key Facts


Terminology



  • Lesional histiocytes contain variable numbers of intact lymphocytes within their cytoplasm



    • Referred to as lymphophagocytosis or emperipolesis


  • Sinus histiocytosis with massive lymphadenopathy (term for disease involving lymph nodes)


Clinical Issues



  • Painless lymphadenopathy most frequent presenting symptom


  • Skin and soft tissue most common extranodal site


  • Poor prognosis correlates with widespread dissemination



    • Involves kidneys, lower respiratory tract, liver, and immunologic abnormalities or anemia


  • Most patients have complete & spontaneous remission



    • Some may experience recurrent or persistent but stable lymphadenopathy


Microscopic Pathology



  • Skin and soft tissue cases have more subtle histologic features than lymph node counterparts


  • Emperipolesis less conspicuous


  • Proliferating histiocytes frequently spindled


  • Majority of lesions label with S100


  • Vague storiform pattern


  • Scattered lymphoplasmacytic aggregates


Top Differential Diagnoses



  • Langerhans cell histiocytosis (LCH)


  • Juvenile xanthogranuloma


  • Disorders featuring granulomatous inflammation


  • Histiocytic sarcoma (histiocytic lymphoma)







Histologic examination shows a low-power image of extranodal (soft tissue) Rosai-Dorfman disease. The proliferating histiocytes are spindled, infiltrating fat. Small lymphoid aggregates are present.






S100 protein shows labeling of the proliferating histiocytes. The staining pattern is not diffuse and must be correlated with the morphology. Some labeled cells are dendritic cells.


TERMINOLOGY


Abbreviations



  • Rosai-Dorfman disease (RDD)


Synonyms



  • Sinus histiocytosis with massive lymphadenopathy (SHML)



    • Applies to disease involving lymph nodes


Definitions



  • Rare, acquired, nonmalignant proliferation of distinctive histiocytes that presents with lymphadenopathy or extranodal disease



    • Lesional histiocytes contain variable numbers of intact lymphocytes within cytoplasm



      • Phenomenon referred to as lymphophagocytosis or emperipolesis


    • Primarily in children and young adults


ETIOLOGY/PATHOGENESIS


Exuberant Hematopoietic Response to Undetermined Immunologic Trigger



  • Association with autoimmune lymphoproliferative syndrome has been described



    • Inherited disorder of lymphocyte-programmed cell death with mutations in death receptor genes that specifically eliminate apoptosis in lymphocyte subsets


    • Occurs primarily in early childhood


    • May represent acquired disorder of deregulation of apoptotic signaling pathways


  • Various infections associated with cases of RDD/SHML, but none proven as etiologic infectious agent



    • Parvovirus


    • Epstein-Barr virus


    • HHV6


    • Polyoma virus


CLINICAL ISSUES


Presentation



  • Varies with site



    • Painless lymphadenopathy is most frequent presenting symptom



      • Involves cervical region in up to 90% of patients


    • 30-45% of patients have at least 1 site of extranodal involvement as well as lymph node involvement



      • Hepatosplenomegaly uncommon


    • ˜ 25% of patients have extranodal disease only


    • Skin and soft tissue most common extranodal sites



      • Approximate frequency of extranodal sites


      • Skin and soft tissue (16%)


      • Nasal cavity and paranasal sinuses (16%)


      • Eye, orbit, and ocular adnexa (11%)


      • Bone (11%)


      • Salivary gland (7%)


      • Central nervous system (7%)


      • Oral cavity (4%)


      • Kidney and genitourinary tract (3%)


      • Respiratory tract (3%)


      • Liver (1%)


      • Tonsil (1%)


      • Breast (< 1%)


      • Gastrointestinal tract (< 1%)


      • Heart (< 1%)


    • Simultaneous involvement of multiple extranodal sites not unusual


    • Involvement of kidney, lower respiratory tract, and liver associated with worse clinical outcome (as is number of extranodal sites)


Treatment



  • Most patients require little intervention


Prognosis



  • Most patients have complete and spontaneous remission



  • Some may experience recurrent or persistent but stable lymphadenopathy


  • In very few cases, disease follows aggressive course and may be fatal



    • Poor prognosis correlates with widespread dissemination, involvement of kidneys, lower respiratory tract, and liver, and immunologic abnormalities or anemia


MACROSCOPIC FEATURES


General Features

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Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Rosai-Dorfman Disease

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