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Article

Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.

The British journal of dermatology - 1 Oct 2012

Schumann H, Roth W, Has C, Volz A, Erfurt-Berge C, Magin T M, Bruckner-Tuderman L

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is mainly caused by mutations in the KRT5 and KRT14 genes. Squamous cell carcinoma (SCC) represents the second most frequent skin neoplasia with complex aetiology. The molecular events disrupting the orchestrated interplay between the cytoskeleton, cell adhesion molecules and signalling proteins are ill understood in SCC. We describe the molecular background and the unusual...

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Source

Identifiers

PMID: 22639907
DOI: 10.1111/j.1365-2133.2012.11075.x

Genes

KRT5
KRT14

Variants

Provenance

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Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.PMID 22639907Read ↗

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Unravelling drivers of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14Semantic proximity Read ↗

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.Semantic proximity Read ↗

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