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Article

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

The British journal of dermatology - 1 Jan 2006

Gedicke M M, Traupe H, Fischer B, Tinschert S, Hennies H C

Abstract excerpt

Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and disp...

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Share to DNA Mutational Analysis
Share to Ichthyosiform Erythroderma, Congenital
Share to Keratoderma, Palmoplantar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 16403113
DOI: 10.1111/j.1365-2133.2005.06995.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16403113-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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