Atopic Dermatitis with Ichthyosis, Recurrent Fungal and Viral Infections: A Case of Concurrent FLG and Multiple Immune-Related Gene Mutations

特应性皮炎伴鱼鳞病、反复真菌和病毒感染:一例同时患有FLG和多种免疫相关基因突变的病例

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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.

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