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Rosai-Dorfman Disease

Destombes Rosai Dorfman Syndrome

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.


Presentation

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 [1] [2]. 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 [1] [3]. For this reason, the term sinus histiocytosis with massive lymphadenopathy (SHML) is often used as a synonym [1] [3]. 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 [4] [5]. 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 [1] [6]. 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 [4].

Fever of Unknown Origin
  • Knockaert, Recurrent Fevers of Unknown Origin, Infectious Disease Clinics of North America, 21, 4, (1189), (2007).[doi.org]
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]
Pharyngitis
  • 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.[symptoma.com]
Exertional Dyspnea
  • This treatment provided brief relief of her symptoms, but stridor and exertional dyspnea recurred quickly. These symptoms were being caused by a residual subglottic mass.[current-oncology.com]
Heart Disease
  • Shin Il Kim, Ji Young Han, Young Hoon Park, Joo Han Lim, Moon Hee Lee, Chul Soo Kim and Hyeon Gyu Yi, Rosai-Dorfman Disease Combined with Aortic Vasculitis, Arrhythmia, and Valvular Heart Disease, Soonchunhyang Medical Science, 10.15746/sms.14.007, 20[doi.org]
Parotid Swelling
  • Finally, RDD should be included in differential diagnosis of lymphadenopathy and parotid swelling even in very young children.[ncbi.nlm.nih.gov]
Fracture
  • The radiological examinations revealed collapse, osteolytic lesion and compressive fracture, which reduced vertical diameter of C4 vertebral body.[ncbi.nlm.nih.gov]
  • The complications of Rosai-Dorfman Disease of Bone may include the following: Emotional stress: Prolonged enlargement of the lymph nodes raising a concern for malignant conditions such as lymphomas Easy bone fractures due to weakening of the involved[dovemed.com]
  • Do Young Kim, Ji Hye Park, Dong Ah Shin, Seung Yi, Yoon Ha, Do Heum Yoon and Keung Nyun Kim, Rosai-Dorfman Disease in Thoracic Spine: A Rare Case of Compression Fracture, Korean Journal of Spine, 11, 3, (198), (2014).[doi.org]
Back Pain
  • A 14-year-old girl presented with cervical back pain for about one month as the only symptom. There was no lymphadenopathy. Results of laboratory tests were within reference ranges.[ncbi.nlm.nih.gov]
  • Case Report A 32-year-old male presented with a two-month history of an insidious onset and gradually progressive low back pain and asymmetric spastic paraparesis without any sphincter disturbance.[cancerjournal.net]
Dry Skin
  • His main complaints were a dry cough, bilateral neck swelling, dry mouth, dry skin, itchy eyes, and general fatigability.[ncbi.nlm.nih.gov]
Dry Eyes
  • Eye examination revealed dry eyes after having a positive Schirmer test. For diagnosis, the patient underwent complete blood count, autoantibody, histopathology, immunohistochemistry, and radiological assessment.[ncbi.nlm.nih.gov]
Foreign Body Sensation
  • In the present case report, a 67-year-old Chinese woman presented with a 3-month history of progressive voice hoarseness, progressive dyspnea on exertion and a foreign body sensation.[ncbi.nlm.nih.gov]
Facial Numbness
  • We report the case of a 46-year-old woman with isolated RDD of the left cavernous sinus with left facial numbness and weakness of the left masticatory muscle.[ncbi.nlm.nih.gov]
Convulsions
  • 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]
Hyperreflexia
  • On physical exam, the patient displayed progressive weakness and tendon hyperreflexia of the lower limbs.[ncbi.nlm.nih.gov]

Workup

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 [3] [4] [5]. 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 [4]. 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 [5]. 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 [5]. In addition, positive S-100 and CD68 , together with negative CD1a, are key findings on immunohistochemistry testing [3] [5].

Brain Edema
  • The lesion was a homogeneous contrast enhancement mass with dural tail sign and had peritumoral brain edema. Pathological analysis showed the lesion consisted of variable numbers of mature lymphocytes, plasma cells and neutrophils.[ncbi.nlm.nih.gov]

Treatment

  • 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]

Prognosis

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • The underlying pathophysiology of this overlap and the clinical significance with respect to treatment and prognosis is not yet clear.[err.ersjournals.com]

Prevention

  • 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]

References

Article

  1. 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.
  2. Ribeiro BN de F, Marchiori E. Rosai-Dorfman disease affecting the nasal cavities and paranasal sinuses. Radiologia Brasileira. 2016;49(4):275-276.
  3. 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.
  4. 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.
  5. 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.
  6. 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.

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Last updated: 2019-06-28 10:50