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Article

A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.

The Journal of dermatology - 1 Oct 2005

Uezato Hiroshi, Yamamoto Yu-Ichi, Kuwae Chojiro, Nonaka Kimiko, Oshiro Minoru, Kariya Ken-Ichi, Nonaka Shigeo

Abstract excerpt

Bullous congenital ichthyosiform erythroderma (BCIE) is an autosomally dominant inherited disorder characterized by erythematous, erosive, and bullous skin lesions over the entire body at birth and abnormal hyperkeratosis on the palmoplantar sufaces as the patient grows older. BCIE is caused by a mutation in the keratin 1 (K1) and/or keratin 10 (K10) genes, and most pathogenic mutations are found within the helix...

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Source

Identifiers

PMID: 16361731
DOI: 10.1111/j.1346-8138.2005.tb00848.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.PMID 16361731Read ↗

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.Semantic proximity Read ↗

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).Semantic proximity Read ↗

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

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

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.Semantic proximity Read ↗

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.Semantic proximity Read ↗

[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].Semantic proximity Read ↗

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.Semantic proximity Read ↗

Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Semantic proximity Read ↗

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Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.Semantic proximity Read ↗

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