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Article

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

JAMA dermatology - 1 Feb 2025

Gram Stine Bjørn, Brusgaard Klaus, Lei Ulrikke, Sommerlund Mette, Vinding Gabrielle Randskov, Sleire Sondre Olai Kjellevold, Christensen Alex Hørby, Fast Sanne Pedersen, Bach Rasmus, Bygum Anette, Ousager Lilian Bomme

Abstract excerpt

Importance: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse. Objective: To improve knowledge of the clinical and genetic spectrum of patients with palmoplantar keratoderma. Design, Setting, and Participants: This cohort study prospectively recruited...

Read the complete abstract on PubMed

Topics

Humans
Keratoderma, Palmoplantar
Female
Male
Adult
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Aged

Adolescent

Prospective Studies

Young Adult

Phenotype

Aged, 80 and over

Denmark

Genetic Testing

Genetic Association Studies

Exome Sequencing

Cohort Studies

CARD Signaling Adaptor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39630431
DOI: 10.1001/jamadermatol.2024.4824
PMCID: PMC11618570

Genes

AAGAB
DSP
ABCA12
AQP5
CARD14
COL7A1
DSG1
DST
KRT1
KRT16
KRT9
LORICRIN
SERPINA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.PMID 39630431Read ↗

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