Work

Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports

Year: 2025

Type: article

Abstract: Background: Netherton syndrome (NS) is a rare, autosomal recessive disease resulting from a mutation in the pathogenic variants in the Kazal type 5 (SPINK5) gene. In recent years, the targeted treatment of biological agents has increasingly emerged as a focal point of research. Case reports: We reported a 4-month-old child and 19-year-old female, both presenting with symptoms including erythema, scaling, and recurring episodes. Subsequently, genetic testing identified a defective SPINK5 gene, leading to a diagnosis of NS. The child received treatment with dupilumab, while the 19-year-old woman alternated between using dupilumab and secukinumab. Both patients had swift and enduring enhancement of skin lesions during the follow-up period. Conclusion: NS is an uncommon and frequently misdiagnosed hereditary dermatological disease. The management strategies for this condition are diverse, and no consensus exists. We implemented various biologic regimens for distinct patients, all demonstrating favorable outcomes and satisfactory tolerance. Besides, monitoring and evaluating the long-term safety of biologics in combination is essential.

Source: Frontiers in Allergy

DOI: 10.3389/falgy.2025.1667357

Authors: Wanyan Xiang, Chengxiang Lian, Jiarong Lu, Wenjun Zheng, Qiuju Li

Institutions: Guangxi Medical University, First Affiliated Hospital of GuangXi Medical University

Language: English

Topic: Dermatology and Skin Diseases

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,077