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Article

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.

The Journal of dermatology - 1 Jan 2022

Wang Jianbo, Yu Ling, Zhang Shuai, Wang Chen, Li Zhenlu, Li Ming, Zhang Shoumin

Abstract excerpt

Netherton syndrome (NS) is a rare autosomal recessive genetic disease caused by SPINK5 gene mutation without specific effective therapies available. We report a case of NS confirmed by whole exome sequencing of DNA using peripheral blood, and Sanger sequencing found two new mutations associated with her clinical presentation located at SPINK5 gene c.1220+5G>A from her father and c.1870delA from her mother. The...

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Identifiers

PMID: 34862657
DOI: 10.1111/1346-8138.16253

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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