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Article

A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.

The Journal of investigative dermatology - 1 Dec 1998

Suga Y, Duncan K O, Heald P W, Roop D R

Abstract excerpt

Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been described in two separate kindreds. Individuals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. Characteristically, they also develop intermittent bouts of...

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Identifiers

PMID: 9856845
DOI: 10.1046/j.1523-1747.1998.00451.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.PMID 9856845Read ↗

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Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.Semantic proximity Read ↗

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Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.Semantic proximity Read ↗

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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 ↗

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New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.Semantic proximity Read ↗

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.Semantic proximity Read ↗

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