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

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 (<i>N. glabrata</i>) 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 <i>FLG</i> frameshift mutation (c.3321delA) together with heterozygous variants in <i>TNFRSF13B, MPO</i>, and <i>DOCK8</i>, 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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Publication Details

Journal
Clinical Cosmetic and Investigational Dermatology
Published
2026-02-01
DOI
https://doi.org/10.2147/ccid.s574431
Primary Topic
Dermatology and Skin Diseases
Type
article
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0.00
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article

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

Chinin Huang, Jiachen Sun, Chunlei Zhang
Clinical Cosmetic and Investigational Dermatology
Dermatology and Skin Diseases
article

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

Chinin Huang, Jiachen Sun, Chunlei Zhang
article en

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 (<i>N. glabrata</i>) 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 <i>FLG</i> frameshift mutation (c.3321delA) together with heterozygous variants in <i>TNFRSF13B, MPO</i>, and <i>DOCK8</i>, 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.

Clinical Cosmetic and Investigational DermatologyVol. Volume 19
Peking University (CN), Peking University Third Hospital (CN)
Good health and well-being
Openalex Percentile: Top 66%
Dermatology and Skin Diseases
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