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

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

SUBMITTER: Xiang W 

PROVIDER: S-EPMC12441801 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature