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Article

[Netherton syndrome].

Actas dermo-sifiliograficas - 1 Jun 2006

Serra-Guillén Carlos, Torrelo Antonio, Drake Marta, Armesto Susana, Fernández-Llaca Héctor, Zambrano Antonio

Abstract excerpt

Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16956571
DOI: 10.1016/s0001-7310(06)73417-2

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16956571-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Netherton syndrome].PMID 16956571Read ↗

Netherton syndrome and its multifaceted defective protein LEKTI.Semantic proximity Read ↗

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Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.Semantic proximity Read ↗

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.Semantic proximity Read ↗

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

Netherton Syndrome -- a therapeutic challenge in childhoodSemantic proximity Read ↗

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.Semantic proximity Read ↗

Netherton syndrome: A neonatal case with respiratory insufficiency.Semantic proximity Read ↗

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