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Article

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

European journal of dermatology : EJD - 1 Jan 2000

Terrinoni Alessandro, Cocuroccia Barbara, Gubinelli Emanuela, Zambruno Giovanna, Candi Eleonora, Melino Gerry, Girolomoni Giampiero

Abstract excerpt

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of hyperkeratosis and epidermolysis. Ultrastructurally, there is vacuolization of the cytoplasm and abnormal keratin filament network with tonofilament clumping. EPPK is caused by mutations in the keratin 9 gene (KRT9), which is expressed...

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Source

Identifiers

PMID: 15564199

Genes

KRT9

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.PMID 15564199Read ↗

A novel mutation of keratin 9 gene (R162P) in a Japanese family 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 ↗

A novel mutation of keratin 9 in a large Chinese family 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 ↗

Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.Semantic proximity Read ↗

Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.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 ↗

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

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

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