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Article

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

The Journal of dermatology - 1 Mar 2022

Cohen-Barak Eran, Mwassi Bannan, Zagairy Fadia, Danial-Farran Nada, Khayat Morad, Tatour Yasmin, Ziv Michael

Abstract excerpt

Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infections, and cutaneous neoplasms. Cutaneous somatic mutations in the same gene are associated with porokeratotic eccrine ostial dermal duct nevus. Here we report a...

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Identifiers

PMID: 34889473
DOI: 10.1111/1346-8138.16268

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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.

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