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Article

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

European journal of dermatology : EJD - 1 Jan 2000

Morais Paulo, Mota Alberto, Baudrier Teresa, Lopes José Manuel, Cerqueira Rita, Tavares Purificação, Azevedo Filomena

Abstract excerpt

We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperkeratosis, Epidermolytic

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Source

Identifiers

PMID: 19443303
DOI: 10.1684/ejd.2009.0684

Genes

KRT10
KRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.PMID 19443303Read ↗

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.Semantic proximity Read ↗

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.Semantic proximity Read ↗

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.Semantic proximity Read ↗

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

Hereditary Palmoplantar KeratodermasSemantic proximity Read ↗

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

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

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy.Semantic proximity Read ↗

A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10.Semantic proximity Read ↗

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

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.Semantic proximity Read ↗

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