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

A case is presented of a 50-year-old man with Rosai Dorfman Syndrome (Sinus histiocytosis with massive lymphadenopathy) who had facial, cervical and cutaneous involvement.
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PMID:The Rosai Dorfman syndrome in a 50-year-old male. 292 Jan 62

Sinus histiocytosis with massive lymphadenopathy also known as Rosai-Dorfman disease is a rare, benign, histiocytic disorder of unknown origin characterized by lymphadenopathy. Since its original description by Rosai and Dorfman in 1969, small number of cases has been reported; hence no specific diagnostic criteria and treatment guidelines have been suggested. The purpose of this article is to present and discuss a case of Rosai Dorfman Syndrome in 4-year-old child diagnosed with the help of Fine Needle Aspiration Cytology. The swelling resolved over a period of 18 months without any recurrence in 2-year follow-up period. This case report highlights the role of Fine Needle Aspiration Cytology in the diagnosis of Rosai-Dorfman disease and the importance of regular follow ups using a careful wait and watch approach in its management. The report also briefly discusses the various dilemmas associated with its diagnosis and treatment.
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PMID:Sinus histiocytosis with massive lymphadenopathy: a "massive" misnomer. 2508 89

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