Work

Severe Atopic Dermatitis and Multiple Allergies as a Result of Genetic Variant in DSG1: A Case Report

Year: 2026

Type: article

Abstract: Introduction: Desmoglein 1 (DSG1) is a structural cornerstone of the epidermis, essential for maintaining the skin barrier. Structural or functional alterations in this protein lead to significant cutaneous protection failure. Case Presentation: We present the case of an 18-year-old male with recalcitrant atopic dermatitis and allergic rhinitis. Despite conventional therapy, disease control was not achieved, and the clinical picture was complicated by the development of cold abscesses on the ankles. Immunological screening revealed markedly elevated IgE levels. Next-generation sequencing (NGS) using an Inborn Errors of Immunity and Cytopenias panel identified a heterozygous pathogenic variant, c.2569C>T (p.Arg857*), in the DSG1 gene. Conclusion: The immunopathological mechanisms underlying DSG1 alterations and their relationship with atopic dermatitis are multifaceted, involving a spectrum of structural epidermal abnormalities and immune dysregulation. Identifying the specific inflammatory endotype is crucial for implementing precision medicine and targeted therapeutic strategies.

Source: Immune system

DOI: 10.1159/000551873

Authors: César Daniel Alonso Bello, Diana Citlalli García Luna

Institution: Hospital Juárez de México

Language: English

Topic: Dermatology and Skin Diseases

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7159974975