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已发表论文
伴鱼鳞病及复发性真菌和病毒感染的特应性皮炎：一例 FLG 与多种免疫相关基因突变并存病例
Authors Huang C, Sun J , Zhang C
Received 15 October 2025
Accepted for publication 28 January 2026
Published 5 February 2026 Volume 2026:19 574431
DOI https://doi.org/10.2147/CCID.S574431
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Monica K. Li
Chinin Huang, Jiachen Sun, Chunlei Zhang
Department of Dermatology, Peking University Third Hospital, Beijing, People’s Republic of China
Correspondence: Chunlei Zhang, Department of Dermatology, Peking University Third Hospital, North Garden Road, Haidian District, Beijing, 100191, People’s Republic of China, Tel +8615611963048, Email zhangchunleius@163.com
Abstract: Atopic dermatitis (AD) is frequently associated with epidermal barrier dysfunction and may be complicated by recurrent infections. We report a 31-year-old Han Chinese woman with lifelong ichthyosis vulgaris and severe AD, complicated by recurrent vaginal Nakaseomyces glabratus (N. glabrata) infection and herpes simplex virus type 1 (HSV-1) reactivation. Antifungal susceptibility testing demonstrated reduced susceptibility to multiple azole agents. Whole-exome sequencing identified a heterozygous FLG frameshift mutation (c.3321delA) together with heterozygous variants in TNFRSF13B, MPO, and DOCK8, all confirmed by Sanger sequencing. At follow-up, mucocutaneous infections improved, while cutaneous manifestations persisted under topical management. This case highlights the potential combined contribution of epidermal barrier defects and immune-related gene variants to complex atopic disease with recurrent infections.
Keywords: atopic dermatitis, ichthyosis, FLG mutation, DOCK 8 deficiency, recurrent infection, immunodeficiency
Department of Dermatology, Peking University Third Hospital, Beijing, People’s Republic of China
Correspondence: Chunlei Zhang, Department of Dermatology, Peking University Third Hospital, North Garden Road, Haidian District, Beijing, 100191, People’s Republic of China, Tel +8615611963048, Email zhangchunleius@163.com
Abstract: Atopic dermatitis (AD) is frequently associated with epidermal barrier dysfunction and may be complicated by recurrent infections. We report a 31-year-old Han Chinese woman with lifelong ichthyosis vulgaris and severe AD, complicated by recurrent vaginal Nakaseomyces glabratus (N. glabrata) infection and herpes simplex virus type 1 (HSV-1) reactivation. Antifungal susceptibility testing demonstrated reduced susceptibility to multiple azole agents. Whole-exome sequencing identified a heterozygous FLG frameshift mutation (c.3321delA) together with heterozygous variants in TNFRSF13B, MPO, and DOCK8, all confirmed by Sanger sequencing. At follow-up, mucocutaneous infections improved, while cutaneous manifestations persisted under topical management. This case highlights the potential combined contribution of epidermal barrier defects and immune-related gene variants to complex atopic disease with recurrent infections.
Keywords: atopic dermatitis, ichthyosis, FLG mutation, DOCK 8 deficiency, recurrent infection, immunodeficiency