國家衛生研究院 NHRI:Item 3990099045/14750
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    题名: 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
    贡献者: 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
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