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泛发性纯皮肤型罗萨伊-多夫曼病:炎症与癌症之间的联系与线粒体DNA和SLC29A3基因突变无关?

Generalized pure cutaneous Rosai-Dorfman disease: a link between inflammation and cancer not associated with mitochondrial DNA and SLC29A3 gene mutation?

作者信息

Zheng Min, Bi Rui, Li Wei, Landeck Lilla, Chen Jia-Qi, Lao Li-Min, Cai Sui-Qing, Yao Yong-Gang, Man Xiao-Yong

机构信息

Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.

出版信息

Discov Med. 2013 Nov;16(89):193-200.

PMID:24229736
Abstract

Recently, we described a case of generalized pure cutaneous Rosai-Dorfman disease in a 43-year-old Asian man in JAMA. The lesions distributed on nearly all of the skin of the whole body, except for mucous sites. Molecular, immunophenotypic, and sequencing analyses seem to define it as a histiocytic-mesenchymal transition and intermediate proliferative histiocytosis not associated with mtDNA large deletion and pathogenic mutation, as well as the SLC29A3 gene mutation.

摘要

最近,我们在《美国医学会杂志》上描述了一例43岁亚洲男性的泛发性纯皮肤型罗萨伊-多夫曼病病例。皮损分布于全身几乎所有皮肤,除黏膜部位外。分子、免疫表型和测序分析似乎将其定义为一种组织细胞-间充质转化和中间增殖性组织细胞增多症,与线粒体DNA大片段缺失和致病突变以及SLC29A3基因突变无关。

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Generalized pure cutaneous Rosai-Dorfman disease: a link between inflammation and cancer not associated with mitochondrial DNA and SLC29A3 gene mutation?泛发性纯皮肤型罗萨伊-多夫曼病:炎症与癌症之间的联系与线粒体DNA和SLC29A3基因突变无关?
Discov Med. 2013 Nov;16(89):193-200.
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A linear presentation of cutaneous Rosai Dorfman disease.皮肤型Rosai-Dorfman病的线性表现。
JAAD Case Rep. 2025 Jun 4;62:61-64. doi: 10.1016/j.jdcr.2025.05.004. eCollection 2025 Aug.
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Combined Cutaneous Rosai-Dorfman Disease and Localized Cutaneous Langerhans Cell Histiocytosis Within a Single Subcutaneous Nodule.单个皮下结节内合并皮肤型Rosai-Dorfman病和局限性皮肤朗格汉斯细胞组织细胞增生症
Am J Dermatopathol. 2015 Dec;37(12):936-9. doi: 10.1097/DAD.0000000000000347.
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Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.
在中国一名患有H综合征的患者中鉴定溶质载体家族29成员3中的一种新突变。
Chin Med J (Engl). 2015 May 20;128(10):1336-9. doi: 10.4103/0366-6999.156778.