Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver biopsies were studied in 47 cases representing various histiocytosis syndromes. These included 32 cases of hemophagocytic syndrome, 11 cases of Langerhans cell histiocysis (LCH), and 4 cases of other histiocytic disorders. All cases of hemophagocytic syndrome, except one with cytomegalovirus infection, displayed portal lymphohistiocytic infiltrates dominated by T lymphocytes. Activation of the hepatic mononuclear phagocytic system (MPS), evidenced by enlarged von Kupffer cells, some of which were hemophagocytic, was seen in 28 cases of hemophagocytic syndrome. Endothelial enlargement, minor degrees of hepatocellular degeneration, and steatosis were also noted. Ten of the 11 cases of LCH also showed activation of the MPS. It was the only lesion in two biopsies. Seven cases demonstrated nonspecific "triaditis." In three this was associated with cholangiocentric and random acinar histiocytic lesions. Evidence of activation of the MPS was also observed in both cases of Rosai-Dorfman disease and was accompanied by acinar histiocytic lesions in one and triaditis in the other. Likewise, both cases of juvenile xanthogranuloma showed activation of the MPS and focal granulomatous lesions. It is concluded that activation of the MPS is a common feature of liver disease in histiocytosis syndromes and that hepatic enlargement may be the result of this process instead of, or in addition to, the liver lesions known to be featured in these disorders. Hepatic lesions of the various histiocytosis syndromes resemble typical lesions in other sites and, in some instances, are accompanied by nonspecific changes. These nonspecific changes may occur in the absence of lesions that are diagnostic or typical of the particular histiocytosis syndrome. The location and character of hepatic lesions are important factors in the significance of liver involvement.
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PMID:Histopathology of the liver in histiocytosis syndromes. 902 43

Rosai-Dorfman syndrome is characterized by sinus histiocytosis with massive lymphadenopathy. A 25-year-old woman presented with multiple erythematous and yellowish papules on the forehead, cheeks, chin and thigh. She had massive generalized, firm, non-tender and non-matted lymphadenopathy and mild hepatomegaly. Her hemogram was normal. A skin biopsy showed collections of histiocytes with emperipolesis and plenty of plasma cells. A lymph node biopsy showed partial loss of architecture, dilated sinuses filled with histiocytes, which showed lymphocytophagocytosis, anisonucleosis and a clear cytoplasm. She was referred to an oncologist for further management.
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PMID:Rosai-Dorfman syndrome. 1639 60

Rosai-Dorfman disease (RDD) is a rare entity of non-Langerhans cell histiocytoses (non-LCH) which usually presents with bilateral painless cervical lymphadenopathy. We describe a neonate with RDD who presented with anemia, thrombocytopenia and hepatomegaly. He recovered spontaneously with conservative management. This represents an atypical presentation of RDD. Conservative management with close monitoring can be adopted for some with systemic involvement.
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PMID:Congenital Rosai-Dorfman disease presenting with anemia, thrombocytopenia, and hepatomegaly. 1906 Dec 11

The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder.
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PMID:Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 2014 Feb 40

Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes. hENT3 spectrum disorders share a common mutation and share overlapping clinical manifestations that display many intriguing resemblances to mitochondrial and lysosomal disorders. Although earlier studies identify hENT3 as a mitochondrial and a lysosomal nucleoside transporter, the precise connections between hENT3 and the pathophysiology of these disorders remain unresolved. In this study, we performed functional and biochemical characterization of these mutations in hENT3. We report severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants. In addition to transport alterations, we provide evidence for possible loss of hENT3 functions in all H and pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndromes due to either mistrafficking or altered stability of mutant hENT3 proteins.
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PMID:Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 2059 84