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

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Pediatric dermatology - 1 May 2016

Forrest Charlotte E, Casey Genevieve, Mordaunt Dylan A, Thompson Elizabeth M, Gordon Lynne

Abstract excerpt

BACKGROUND: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. OBJECTIVES: Living with Pachyonychia Congenita can be isolating. The aim of...

Read the complete abstract on PubMed

Topics

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

Share to Australia
Share to Dermatologic Agents
Share to Drug Therapy, Combination

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Keratin-6

Share to Leukoplakia, Oral

Share to Rare Diseases

Share to Risk Assessment

Source

Identifiers

PMID: 27041546
DOI: 10.1111/pde.12841

Genes

KRT16
KRT17

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.PMID 27041546Read ↗

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.Semantic proximity Read ↗

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.Semantic proximity Read ↗

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.Semantic proximity Read ↗

Clinical and pathological features of pachyonychia congenita.Semantic proximity Read ↗

Pachyonychia congenita in pediatric patients: natural history, features, and impact.Semantic proximity Read ↗

Identification of clinically useful predictive genetic variants in pachyonychia congenita.Semantic proximity Read ↗

Phenotype and genotype features of Vietnamese children with pachyonychia congenita.Semantic proximity Read ↗

The phenotypic and molecular genetic features of pachyonychia congenita.Semantic proximity Read ↗

Pachyonychia congenita: mutations and clinical presentationsSemantic proximity Read ↗

The molecular genetic analysis of the expanding pachyonychia congenita case collection.Semantic proximity Read ↗

A large mutational study in pachyonychia congenita.Semantic proximity Read ↗

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.Semantic proximity Read ↗

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