Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare idiopathic condition characterized by painless cervical lymphadenopathy. Accompanying features are fever, leukocytosis, and weight loss. Deposition of histiocytes in other organs has been observed, which is why the diagnosis rests on a thorough imaging and laboratory workup, histopathological examination and immunohistochemistry testing.
Rosai-Dorfman disease is primarily encountered in adolescents, as more than 80% of cases are diagnosed in patients under 20 years of age, and a small, but significant predilection toward male gender is observed  . The clinical presentation is diverse, but the deposition of histiocytes in lymphatic tissues is primarily manifested as massive and painless bilateral cervical lymphadenopathy, which is considered to be the hallmark of the disease  . For this reason, the term sinus histiocytosis with massive lymphadenopathy (SHML) is often used as a synonym  . Fever, weight loss, night sweats, malaise, and pharyngitis are additional symptoms, while enlargement of other lymph nodes (axillary, mediastinal, inguinal, retroperitoneal) is reported in some cases  . Extranodal accumulation of histiocytes was reported in numerous sites, including the genitourinary and gastrointestinal tracts, the lungs, skin, heart, musculoskeletal system, thyroid gland, the orbit and in very rare cases, the central nervous system and the breast  . As a result, a myriad of symptoms can be seen depending on the organ or tissue involved - Headaches and seizures, in addition to constitutional symptoms, are reported when the head and neck area is the site of histiocyte proliferation, whereas solitary or multiple skin lesions of various types (macular, papular, nodular, xanthomatous) or a soft tissue mass may be seen on the face, trunk, extremities or genitalia in the case of skin or soft tissue deposition .
Entire Body System
- Generalized Lymphadenopathy
We describe the case of a 50-year-old lady suffering from this disease who presented with generalized lymphadenopathy and a left sided chest wall lump. [ncbi.nlm.nih.gov]
RDD typically presents insidiously with generalized lymphadenopathy and a polymorphic histiocytic infiltration of the lymph node sinuses. [wjso.biomedcentral.com]
Physicians need to have a high degree of suspicion in patients presenting with generalized lymphadenopathy, with or without extranodal involvement, to diagnose RDD. S100 positive immunohistochemical staining clinch the diagnosis in favor of RDD. [jdrntruhs.org]
Jaw & Teeth
Face, Head & Neck
In case 1, a 39-year-old man presented with headaches and paroxysmal convulsions of the limbs. Magnetic resonance imaging showed multiple solid masses located at the right frontoparietal and left frontal meningeal regions. [ncbi.nlm.nih.gov]
- Mental Deterioration
Acta Medica Nagasakiensia. 2012; 57(2): 57-63 [Pubmed] 3 Isolated intracranial Rosai-Dorfman disease presenting as mental deterioration Li, Y. and Sun, H. and Zhang, Y. and Liu, W. [dx.doi.org]
- Altered Mental Status
We had a 60-year-old African American patient who was admitted from homecare because of altered mental status and bizarre behavior. She had a history of bipolar disease and paranoia. [dx.doi.org]
On physical exam, the patient displayed progressive weakness and tendon hyperreflexia of the lower limbs. [ncbi.nlm.nih.gov]
Further, sensory examination suggested patchy asymmetric sensory loss in both lower limbs with saddle anaesthesia and areflexia. [ncbi.nlm.nih.gov]
Although signs and symptoms may be numerous and non-specific, the presence of bilateral cervical lymphadenopathy must raise clinical suspicion. However, key findings can only be obtained after a meticulous physical examination and a thorough patient history, which are key step during workup. Laboratory evaluation should follow, and anemia, elevated erythrocyte sedimentation rate and hypergammaglobulinemia are cardinal features of Rosai-Dorfman disease   . Because the differential diagnosis involves numerous conditions of infectious and neoplastic (both lymphoproliferative and metastatic forms) origin or disorders of similar pathophysiological mechanisms (such as Langerhans cell histiocytosis), imaging studies are required in order to assess additional organ involvement. Computed tomography (CT) and magnetic resonance imaging (MRI) are recommended procedures, but depending on signs and symptoms, additional studies may be required (ultrasonography, mammography, scintigraphy, echocardiography, etc). To confirm Rosai-Dorfman disease, a histopathological examination is necessary . A dense infiltrate of large histiocytes containing large nuclei, small nucleoli, and a pink cytoplasm, as well as scattered lymphoid cells (lymphocytes and neutrophils) are main characteristics of this condition . The most important distinguishing feature, however, is emperipolesis, defined as the presence of intact lymphoid cells within histiocytes, and is considered as a pathognomonic feature of Rosai-Dorfman disease . In addition, positive S-100 and CD68 , together with negative CD1a, are key findings on immunohistochemistry testing  .
There is no clear consensus with regard to the most effective diagnostic and treatment modalities. This report will focus on the diagnostic imaging, treatment, and outcomes for 3 cases of Rosai-Dorfman disease. [ncbi.nlm.nih.gov]
This therapeutic regimen generally delivers a good prognosis. [ncbi.nlm.nih.gov]
The optimal treatment remains controversial, and more efforts should be focused on the investigation of etiology and adjuvant therapy for relapsing cases or subresected lesions. [ncbi.nlm.nih.gov]
To help improve awareness of Rosai-Dorfman spinal disease, we review the literature and discuss the epidemiology, clinical presentation, imaging features, and treatment considerations for this condition. [ncbi.nlm.nih.gov]
Epidemiology and Demographics The incidence of this disease is It is a disease of the childhood. Natural History, Complications and Prognosis The symptoms of this disease vary with the site of accumulation similar to other regional tumors. [wikidoc.org]
* Department of Dermatology, Boston University School of Medicine, Boston, MA; † Department of Hematology and Oncology, Boston Medical Center, Boston, MA; ‡ Massachusetts Area Veterans Epidemiology Research and Information Center (MAVERIC), VA Cooperative [journals.lww.com]
The epidemiology of extranodal RDD manifesting in epibulbar masses has evolved over the years. Currently, there are 20 reported cases [ 3, 4, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20 ]. [karger.com]
The epidemiologic, laboratory and histologic findings are similar among patients with nodal and extranodal involvement suggesting a common biologic basis. [ispub.com]
Pathophysiology Lymphadenopathy of the neck is the most common place of histiocyte accumulation, although accumulation outside of lymph nodes may occur, as well. [wikidoc.org]
Because the differential diagnosis involves numerous conditions of infectious and neoplastic (both lymphoproliferative and metastatic forms) origin or disorders of similar pathophysiological mechanisms (such as Langerhans cell histiocytosis), imaging [symptoma.com]
The underlying pathophysiology of this overlap and the clinical significance with respect to treatment and prognosis is not yet clear. [err.ersjournals.com]
She refused superficial radiation treatment and the large size of the lesion prevented the tumor from being simply excised. A safe and effective alternative treatment was needed. [jamanetwork.com]
Although many patients experience spontaneously regressing courses, some, such as our patients, will have disease present in a more extensive form requiring treatment, in some cases to prevent functional loss. [ajnr.org]
Although those cases do not assist with the issue of the proper dose–fractionation schedule for rdd lesions, they do provide some evidence that, in selected cases, disease recurrence can be prevented or delayed with the use of either primary or postoperative [current-oncology.com]
NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications [doctor.am]
- Sendrasoa FA, Ranaivo IM, Raharolahy O, et al. Rosai-Dorfman Disease Involving Multiple Organs: An Unusual Case with Poor Prognosis. Case Rep Med. 2016;2016:3920516.
- Ribeiro BN de F, Marchiori E. Rosai-Dorfman disease affecting the nasal cavities and paranasal sinuses. Radiologia Brasileira. 2016;49(4):275-276.
- Symss NP, Cugati G, Vasudevan MC, Ramamurthi R, Pande A. Intracranial Rosai Dorfman Disease: report of three cases and literature review. Asian J Neurosurg. 2010;5(2):19-30.
- Najafi-Sani M, Saneian H, Mahjoub F. Rosai-Dorfman Disease with nodal and extranodal involvements: A case report. J Res Med Sci. 2011;16(9):1251-1256.
- El Majdoub A, El Houari A, Chbani L, El Fatemi H, Khallouk A, Farih MH. Isolated localization of Rosai Dorfman disease as renal mass: a case report and review of literature. Pan Afr Med J. 2016;24:64.
- Zhou Q, Ansari U, Keshav N, Davis F, Cundiff M. Extranodal manifestation of Rosai-Dorfman disease in the breast tissue. Radiol Case Rep. 2016;11(3):125-128.