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)

Rhinoscleroma is an uncommon chronic, destructive infection of the respiratory mucosa caused by Klebsiella rhinoscleromatis. This coccobacillus can be found in the typical histiocytes, the Mikulicz cells. Extranasal and nodal involvement in this disease is rare, but documented. Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy is also a rare, non-hereditary disorder. Bilateral cervical lymphadenopathy with emperipolesis, as the main histological characteristic, is the most common presentation. It can also occur extranodally. We report a case of rhinoscleroma occurring in a 62-year-old woman since 1984, who developed parotid gland and lymph node involvement. The changes in the nasal mucosa and the parotid gland showed chronic inflammation with Mikulicz cells. In the lymph nodes, features characteristic of Rosai-Dorfman disease were seen. Taking into consideration the literature dealing with both of these diseases, we discuss that Rosai-Dorfman disease could be a special type of lymph node reaction and is not necessarily an entity of its own. Therefore, it should be known as Rosai-Dorfman lymph node reaction. Furthermore, there seems to be an interconnection between Rosai-Dorfman disease and rhinoscleroma.
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PMID:Rhinoscleroma associated with Rosai-Dorfman reaction of regional lymph nodes. 1472 Jan 40

Extranodal lesions may be the sole manifestation of Rosai-Dorfman disease (RDD). Although the head and neck region is one of the most common extranodal sites, laryngeal involvement is very rare. A 44-year-old woman presented with a complaint of progressive dyspnea. She had a three-year history of treatment for asthma and a history of operation for a nasal mass that afflicted her for 15 years and was diagnosed as rhinoscleroma. On physical examination, she had three subcutaneous lesions, in the left lower eyelid, right epicanthal area, and left forearm, respectively. No lymphadenopathy was present. Laryngoscopic examination revealed three solid, polypoid masses in the subglottic region, 1 cm in diameter. With a two-staged operation, the laryngeal masses were excised totally together with the subcutaneous lesions. Histological examination of all the specimens showed proliferation of histiocytes. Immunohistochemical staining revealed typical S-100 protein-positive histiocytes and emperipolesis. Both laryngeal and subcutaneous lesions were diagnosed as RDD. A re-evaluation of sections from the previous operation specimen of the nasal mass showed the same morphological features. The patient was healthy without recurrence, nine months following surgery.
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PMID:Rosai-Dorfman disease presenting as laryngeal masses. 1862 47

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.
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PMID:A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. 2223 37

Rosai-Dorfman disease in nasal cavity and nasal sinuses is known as an idiopathic proliferative disease of histiocytes with a distinct morphologic feature and is very rare. It is easy to relapse and be misdiagnosed. In on case, the infiltrating histiocytes had large round or oval nuclei. The cytoplasm was abundant, granular or vacuolated and foamy. Immunohistochemical studies showed that the histiocytes were strongly reactive with antibodies against S100 and CD68. The diagnosis of extranodal RDD in the paranasal sinuses could be differentiated with rhinoscleroma, eosinophilic granuloma, plasmacytoma, or fibrous histiocytoma. It showed that the identification of the distinctive histiocytes which are typically immunoreactive to S100 and CD68 can be quite helpful for correct diagnosis.
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PMID:[One case report of Rosai-Dorfman disease in nasal cavity and nasal sinuses]. 2337 49