{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T03:29:38Z","timestamp":1792726178585,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T00:00:00Z","timestamp":1639008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in <jats:italic>GJB2<\/jats:italic>, 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 family in which a parent presented with localized epidermal nevus and his child suffered with hystrix\u2010like ichthyosis with deafness. Histologic examination of the parent's cutaneous lesion revealed verrucous epidermal nevus without features of porokeratotic eccrine ostial dermal duct nevus. Genetic analysis identified the same pathogenic variant, <jats:italic>GJB2<\/jats:italic> c.148G&gt;A (p.D50N), in DNA extracted from the parent's cutaneous lesion and the child's leukocytes, but not in the parent's leukocytes. This study expands the phenotypic heterogeneity of <jats:italic>GJB2<\/jats:italic> mosaic variants in addition to porokeratotic eccrine ostial dermal duct nevus, and emphasizes the importance of molecular diagnosis of mosaic skin diseases considering the risk of severe inherited diseases in the offspring.<\/jats:p>","DOI":"10.1111\/1346-8138.16268","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T07:36:31Z","timestamp":1639121791000},"page":"379-382","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Parental mosaic cutaneous\u2010gonadal <i>GJB2<\/i> mutation: From epidermal nevus to inherited ichthyosis\u2010deafness syndrome"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5454-7242","authenticated-orcid":false,"given":"Eran","family":"Cohen\u2010Barak","sequence":"first","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"},{"name":"Bruce and Ruth Rappaport Faculty of Medicine Technion  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bannan","family":"Mwassi","sequence":"additional","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"},{"name":"Bruce and Ruth Rappaport Faculty of Medicine Technion  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadia","family":"Zagairy","sequence":"additional","affiliation":[{"name":"Department of Dermatology \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Danial\u2010Farran","sequence":"additional","affiliation":[{"name":"The Genetic Institute \u201cEmek\u201d Medical Center  Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morad","family":"Khayat","sequence":"additional","affiliation":[{"name":"The Genetic Institute 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