Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Pediatric dermatology - 1 Jan 2000

Antonov Nina K, Kingsbery Mina Y, Rohena Luis O, Lee Teresa M, Christiano Angela, Garzon Maria C, Lauren Christine T

Abstract excerpt

Mutations in the desmosomal protein desmoplakin have been associated with various conditions affecting the skin and heart. The prototype is Carvajal syndrome, characterized by cardiomyopathy, woolly hair, palmoplantar keratoderma (PPK), and skin fragility. We report the case of a 3-year-old boy p...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alopecia
Share to Child, Preschool
Share to Desmoplakins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DSP gene

Share to Heart Failure

Share to Keratoderma, Palmoplantar

Share to Mutation

Source

Identifiers

PMID: 25516398
DOI: 10.1111/pde.12484

Genes

DSP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25516398-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.PMID 25516398Read ↗

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

A case of Carvajal syndrome presenting with dilated cardiomyopathy.Semantic proximity Read ↗

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.Semantic proximity Read ↗

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

A novel familial pathogenic desmoplakin (DSP) gene mutation (c.4751_4752del) presenting as "hot-phase" left-dominant arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.Semantic proximity Read ↗

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

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

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.Semantic proximity Read ↗

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.Semantic proximity Read ↗

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 ↗

⌁Select a neighboring publication to make it the new centre.