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

Mosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients.

The Journal of dermatology - 1 Aug 2024

Zhao Anqi, Wang Yumeng, Jia Ning, Lu Fangqi, Pan Chaolan, Wu Fei, Cao Qiaoyu, Li Xin, Wang Xinyi, Wang Shucui, He Wei, Zeng Qin, Huang Haisheng, Han Jianwen, Li Ming

Abstract excerpt

Porokeratotic adnexal ostial nevus (PAON) is a rare adnexal hamartoma characterized by keratotic papules following Blaschko's lines, typically located on the unilateral distal extremities. Cutaneous somatic GJB2 mutations have been linked to the pathogenesis of PAON. However, the genetic mechanism underlying bilateral or extended forms, which are less documented, remains unknown. In this study, we presented two...

Topics

Join the communities discussing this publication.

Connexin 26
Connexins
Mosaicism
Nevus
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38292003
DOI: 10.1111/1346-8138.17127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients.PMID 38292003Read ↗

A possible role for second-hit postzygotic GJB2 mutation in porokeratotic eccrine ostial and dermal duct nevus.Semantic proximity Read ↗

Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.Semantic proximity Read ↗

A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus.Semantic proximity Read ↗

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.Semantic proximity Read ↗

Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.Semantic proximity Read ↗

[Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].Semantic proximity Read ↗

Localized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease.Semantic proximity Read ↗

Compound blue nevus: a reappraisal of the concept in the genomic era.Semantic proximity Read ↗

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.Semantic proximity Read ↗

Coexist of Disseminated Superficial Actinic Porokeratosis and Porokeratosis Ptychotropica with A Novel MVK Gene Mutation: A Case Report and Literature ReviewSemantic proximity Read ↗

[Phakomatosis pigmentovascularis cesioflammea: a case report].Semantic proximity Read ↗

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.Semantic proximity Read ↗

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