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 Department of Dermatology, Peking University Third Hospital, Beijing, People’s Republic of ChinaCorrespondence: Chunlei Zhang, Department of Dermatology, Peking University Third Hospital, North Garden Road, Haidian District, Beijing, 100191, People’s Republic of China, Tel +8615611963048, Email [email protected]: 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