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Article

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Acta dermato-venereologica - 1 May 2016

Hotz Alrun, Oji Vinzenz, Bourrat Emmanuelle, Jonca Nathalie, Mazereeuw-Hautier Juliette, Betz Regina C, Blume-Peytavi Ulrike, Stieler Karola, Morice-Picard Fanny, Schönbuchner Ines, Markus Susanne, Schlipf Nina, Fischer Judith

Abstract excerpt

Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperkeratosis, Epidermolytic

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Source

Identifiers

PMID: 26581228
DOI: 10.2340/00015555-2299

Genes

KRT10
KRT1
KRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.PMID 26581228Read ↗

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Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Semantic proximity Read ↗

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.Semantic proximity Read ↗

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