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Article

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

Acta dermato-venereologica - 1 Mar 2015

Pigors Manuela, Schwieger-Briel Agnes, Cosgarea Rodica, Diaconeasa Adriana, Bruckner-Tuderman Leena, Fleck Thilo, Has Cristina

Abstract excerpt

Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on 3 cases with yet...

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Source

Identifiers

PMID: 25227139
DOI: 10.2340/00015555-1974

Genes

DSP

Variants

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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Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.PMID 25227139Read ↗

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Semantic proximity Read ↗

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Semantic proximity Read ↗

Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin.Semantic proximity Read ↗

Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotypeSemantic proximity Read ↗

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.Semantic proximity Read ↗

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.Semantic proximity Read ↗

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in DesmoplakinSemantic proximity Read ↗

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeSemantic proximity Read ↗

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly HairSemantic proximity Read ↗

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.Semantic proximity Read ↗

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