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Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sinus histiocytosis with massive lymphadenopathy (SHML), also known as Rosai-Dorfman disease (RDD), is an idiopathic histiocytic proliferation affecting lymph nodes. It is typically characterized by painless cervical lymphadenopathy, fever and weight loss. Although extranodal involvement has been reported in diverse sites, intracranial presentation, particularly in the absence of nodal disease is uncommon. To the best of our knowledge, 48 patients with intracranial masses have been reported previously. A 31-year-old man was admitted to our clinic with a 4-month history of progressive headache. His medical history was unremarkable except for occasional fever. There were not any neurological deficit and weight loss. No lymphadenopathy (particularly bilateral cervical) and extranodal involvement in diverse sites were revealed by physical and radiological examinations. Routine hematological and biochemical studies were normal except for mild leukocytosis and elevated erythrocyte sedimentation rate. The patient underwent magnetic resonance imaging (MRI) testing that revealed an enhancing mass in the left temporal lobe. Preoperative diagnosis was meningioma. The patient underwent a left frontotemporal craniotomy with complete resection of the mass. Histopathology was compatible with RDD. Extranodal RDD is rarely found intracranially. Prognosis is benign especially in the absence of nodal disease. It is clinically and radiologically difficult to distinguish from meningioma, and histological examination is essential for a definitive diagnosis.
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PMID:Isolated intracranial Rosai-Dorfman disease mimicking meningioma. 1558 Oct 22

Fever of unknown origin (FUO) characterizes febrile disorders that are accompanied by prolonged fevers of 101 degrees F or greater for 3 weeks or more that remain undiagnosed after comprehensive inpatient and outpatient diagnostic testing. At the present time, malignancies are the most common cause of FUOs. Among malignant FUOs, lymphomas are the most common. We present the case of a non-Asian young adult man who presented with FUO. He had no peripheral adenopathy or splenomegaly but was found to have anterior/superior mediastinal adenopathy and right paratracheal adenopathy. His diagnostic workup was negative for rheumatic/inflammatory and infectious diseases. Laboratory test results were unremarkable except for a highly elevated erythrocyte sedimentation rate and highly elevated serum ferritin level. Otherwise unexplained highly elevated serum ferritin levels in patients with FUOs suggest rheumatic and inflammatory disorders, for example, systemic lupus erythematosus flare or malignancy. The findings of mediastinal adenopathy combined with a highly elevated ESR and highly elevated serum ferritin levels indicate lymphoma as the most likely diagnosis. He also had polyclonal gammopathy on serum protein electrophoresis (SPEP). In a patient with FUO, negative blood cultures, and a heart murmur, polyclonal gammopathy on SPEP suggests atrial myxoma. Lymphomas are often associated with elevated alpha(1)/alpha(2) globulins on SPEP. Lymph node biopsy of the mediastinal nodes was negative for lymphoma but did not show characteristic emperiopolesis, pathognomonic of Rosai-Dorfman disease, a benign lymphoproliferative disorder. Rosai-Dorfman disease usually presents with massive bilateral cervical adenopathy but may present with lymph node involvement in other sites, as in this case. In patients with lymphadenopathy and a negative FUO workup, clinicians should consider the possibility of Rosai-Dorfman disease, particularly if accompanied by an otherwise unexplained highly elevated serum ferritin levels and polyclonal gammopathy on SPEP.
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PMID:Fever of unknown origin (FUO) due to Rosai-Dorfman disease with mediastinal adenopathy mimicking lymphoma: diagnostic importance of elevated serum ferritin levels and polyclonal gammopathy. 1915 May 34

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare benign disorder usually characterized by massive painless cervical lymphadenopathy and systemic manifestations. Extranodal involvement, especially spinal involvement, is extremely rare. We report a 41-year-old man who presented with only intermittent dorsodynia. His condition was diagnosed as non-specific inflammatory disease on the basis of preoperative puncture biopsy results. We performed total surgical resection. Histopathological findings showed distinctive emperipolesis and immunohistochemistry results were positive for cluster of differentiation CD68 and S100 and negative for CD1a. A good prognosis was confirmed at the 3-month follow-up visit. This is the first case of RDD of the subdural spine with such a long segment lesion. There is still no consensus regarding appropriate therapy for this type of RDD and the preoperative diagnosis remains challenging. The unusual presentation of our case serves as a reference when diagnosing and treating RDD.
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PMID:Rosai-Dorfman disease of the subdural spine with a long segment lesion: A case report and literature review. 2817 21

BACKGROUND Rosai-Dorfman disease is a rare disorder that was previously described as sinus histiocytosis with massive lymphadenopathy. The disease is derived from overproduction of monocytes, which play an important role in immunity. The overproduction of macrophages will lead to accumulation of the cells in the affected tissue. CASE REPORT A 40-year-old Saudi male presented with shortness of breath with joint pain starting 3 months prior. His main complaints were a dry cough, bilateral neck swelling, dry mouth, dry skin, itchy eyes, and general fatigability. Physical examination showed that the patient had prominent bilateral parotid swelling that measured roughly 5 by 3 cm, which was firm and tender, with a smooth surface and no local signs of inflammation. Joint examination revealed non-tender and non-swollen joints, with mild limitations of movement. 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. The histopathological study confirmed Rosai-Dorfman disease. Rosai-Dorfman disease can involve various presentations, as in this patient, who exhibited a highly unusual presentation in association with autoimmune disease. CONCLUSIONS Rosai-Dorfman disease must be considered as differential diagnosis in patients who present with bilateral lymphadenopathy with multisystem complaints, as the disease can present with various characteristics.
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PMID:Unusual Presentation of Rosai-Dorfman Disease: Report of a Rare Case. 3066 43

Sinus histiocytosis with massive lymphadenopathy also known as Rosai-Dorfman disease is a rare benign disease that typically manifests as lymphadenopathy with or without systemic manifestations whose etiology remains poorly understood. Most common clinical presentation is painless bilateral cervical lymphadenopathy. However, it also can present in various extranodal sites and can easily be missed because of its rarity if not considered in the differential diagnosis. It commonly occurs in children and young adults with a slightly male predominance. Clinically patients may be mistaken for lymphoma and other infectious disorders like tuberculosis especially in developing countries like in Pakistan where tuberculosis is more prevalent. Here we report a case of a 38-years-old gentleman with bilateral cervical lymphadenopathy and worsening ascites. His symptoms initially mimicking tuberculosis and lymphoma, was finally diagnosed as having Rosai-Dorfman's Disease on intra abdominal lymph node biopsy.
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PMID:Rosai-Dorfman's disease, an uncommon cause of common clinical presentation. 3143 83

We present an atypical presentation of Rosai-Dorfman disease (RDD). Due to its overlap with IgG4-related disease (IgG4-RD), this case proved to be a diagnostic dilemma. Our case is an example of the importance of having a broad-based differential and, ultimately, an in-depth histopathological review. Our patient presented with a constellation of symptoms suggestive of an underlying malignancy. He was provisionally diagnosed with peritoneal carcinomatosis of an unknown primary. His initial presentation triggered a series of investigations, surgery and biopsies. Omental biopsy specimens were suggestive of IgG4-RD. Despite appropriate treatment for IgG4-RD, his disease progressed, specifically in the lungs. Pleural biopsies were then collected and assessed alongside the omental biopsies. On review and reassessment, the patient was formally diagnosed with RDD.
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PMID:Histiocytosis masquerading in the mesentery and pleura. 3179 91

Rosai-Dorfman disease (RDD) typically presents as bulky lymphadenopathy. Somatic mutations in RAS/MAP kinase pathway genes are common but germline mutations are rare. A patient with RDD and exocrine pancreatic insufficiency was found to have a homozygous germline mutation in SLC29A3, which has been associated with the Histiocytosis/Lymphadenopathy Plus Syndrome. His RDD also was positive for a somatic mutation in lymphoid enhancer binding factor 1 (LEF1). The concurrence of RDD and pancreatic insufficiency should raise consideration of SLC29A3 mutations. Other cases will be needed to confirm this observation and a possible contribution of LEF1 to the development of RDD.
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PMID:Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation. 3276 66