Zheng Min, Bi Rui, Li Wei, Landeck Lilla, Chen Jia-Qi, Lao Li-Min, Cai Sui-Qing, Yao Yong-Gang, Man Xiao-Yong
Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
Discov Med. 2013 Nov;16(89):193-200.
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.
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。