國家衛生研究院 NHRI:Item 3990099045/14750
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12145/12927 (94%)
造訪人次 : 910867      線上人數 : 938
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜尋範圍 查詢小技巧：
  • 您可在西文檢索詞彙前後加上"雙引號"，以獲取較精準的檢索結果
  • 若欲以作者姓名搜尋，建議至進階搜尋限定作者欄位，可獲得較完整資料
    •  進階搜尋
    主頁 ‧ 登入 ‧ 上傳 ‧ 說明 ‧ 關於NHRI ‧ 管理 到手機版


    請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/14750


    題名: Protein O-fucosyltransferase-1 mutation in familial Dowling-Degos Disease concomitant with atopic dermatitis
    作者: Wu, RW;Weng, HY;Huang, WP;Lin, YF;Liu, YM;Tsai, SF;Chang, CH
    貢獻者: Institute of Molecular and Genomic Medicine
    摘要: Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticulate hyperpigmentation of the major flexures such as the neck, axillae, cubital fossa, and popliteal fossa. Causative genes of DDD include KRT5, protein O-fucosyltransferase-1 (POFUT1), POGLUT1, and PSENEN. [1] Herein, we report three DDD patients with POFUT1 mutations (c. 879delT; p. Val294fs) in a Taiwanese family, which is a novel mutation variant never been reported yet. Notably, two of the affected family members co-occur with atopic dermatitis (AD). The proband was a 22-year-old female with AD history since childhood. She had xerosis and erythematous plaques with lichenification on the major flexures , neck, and trunk [Figure 1a-c], and a serum immunoglobulin E (IgE) level of 4992 U/mL. Notably, she had reticulate hyperpigmented macules on her neck [Figure 1a], flexural sites of extremities [Figure 1b] overlapping with AD lesions since her 10 years old and later progressed to the trunk [Figure 1c]. A skin biopsy of the reticulate hyperpigmented lesion was performed. The pathology result revealed downward elongated, filiform rete ridges with basal hyperpigmentation [Figure 1d]. Based on clinical and pathological features, DDD is the most favored diagnosis.
    日期: 2022-10
    關聯: Dermatologica Sinica. 2022 Oct-Dec;40(4):251-252.
    Link to: http://dx.doi.org/10.4103/1027-8117.359341
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1027-8117&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000906763000016
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85149014468
    顯示於類別:[蔡世峯] 期刊論文

    文件中的檔案:

    檔案 大小格式瀏覽次數
    ISI000906763000016.pdf878KbAdobe PDF130檢視/開啟


    在NHRI中所有的資料項目都受到原著作權保護.

    TAIR相關文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回饋