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

Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.

Pediatric dermatology - 1 Sept 2020

Liu Jie, Zhong Weilong, Yu Bo, Lin Zhimiao, Zheng Yalei, Hu Xiaoping

Abstract excerpt

Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a...

Read the complete abstract on PubMed

Topics

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

Share to Blister
Share to Keratin-6
Share to Keratoderma, Palmoplantar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 32662074
DOI: 10.1111/pde.14285

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

Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.PMID 32662074Read ↗

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

Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.Semantic proximity Read ↗

The phenotypic and molecular genetic features of pachyonychia congenita.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 ↗

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.Semantic proximity Read ↗

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

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

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.Semantic proximity Read ↗

First case of pachyonychia congenita in the Czech Republic.Semantic proximity Read ↗

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

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.Semantic proximity Read ↗

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

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