國家衛生研究院 NHRI:Item 3990099045/13651
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    题名: Novel ADAR1 mutations in three cases of psoriasis coexisting with dyschromatosis symmetrica hereditaria
    作者: Weng, HY;Wu, RW;Chen, YT;Lin, YF;Liu, YM;Tsai, SF;Chang, CH
    贡献者: Institute of Molecular and Genomic Medicine
    摘要: Psoriasis is a common and important inflammatory dermatosis with more than 80 susceptibility genes identified but rarely associated with pigmentary genodermatosis. We here report three cases with RNA-specific adenosine deaminase (ADAR1) mutations causing psoriasis concomitant with dyschromatosis symmetrica hereditaria (DSH). Two family pedigrees are shown in Figure 1a and Figure 2a. Case 1 is a 62-year-old female and Case 2 is her 34-year-old son with psoriasis onset at 40 and 20 years old, respectively. Besides psoriatic plaques, we discovered reticulate hyperpigmented macules admixed with hypopigmented macules over the fingers and dorsal hands, which is a typical clinical presentation of DSH (Fig. 1b-d).
    日期: 2022-01
    關聯: Journal of the European Academy of Dermatology and Venereology. 2022 Jan;36(1):e54-e57.
    Link to: http://dx.doi.org/10.1111/jdv.17620
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0926-9959&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000691701800001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85114017026
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