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.
Authors
- Chinin Huang
- Jiachen Sun
- Chunlei Zhang
Institutions
- Peking University (CN)
- Peking University Third Hospital (CN)
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
- Field-Weighted Citation Impact
- 0.00