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Article

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.

The Journal of investigative dermatology - 1 Mar 1995

Navsaria H A, Swensson O, Ratnavel R C, Shamsher M, McLean W H, Lane E B, Griffiths D, Eady R A, Leigh I M

Abstract excerpt

Palmoplantar keratoderma of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosomal dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis. We studied members of two large unrelated kindreds with epidermolytic palmoplantar keratoderma, and biopsy specimens of lesional palmar skin from both families confirmed the histologic changes of epidermolytic...

Topics

Base Composition
Family Health
Female
Humans
Keratinocytes
Keratins
Keratoderma, Palmoplantar
Male
Middle Aged
Mutation
Skin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7532198
DOI: 10.1111/1523-1747.ep12666011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7532198-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.PMID 7532198Read ↗

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features.Semantic proximity Read ↗

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.Semantic proximity Read ↗

Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

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Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.Semantic proximity Read ↗

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.Semantic proximity Read ↗

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