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Article

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

Dermatology (Basel, Switzerland) - 1 Jan 2005

Geyer Adam S, Ratajczak Paulina, Pol-Rodriguez Marlyanne, Millar William S, Garzon Maria, Richard Gabriele

Abstract excerpt

BACKGROUND: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also...

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Source

Identifiers

PMID: 15942217
DOI: 10.1159/000084755

Genes

SPINK5
NTS

Provenance

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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Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.PMID 15942217Read ↗

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Semantic proximity Read ↗

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