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In addition, pathogenic variants in <jats:italic>ABCA12<\/jats:italic> are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an <jats:italic>ABCA12<\/jats:italic> variant but did not show a \u201ccongenital\u201d phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with <jats:italic>ABCA12<\/jats:italic> variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have <jats:italic>ABCA12<\/jats:italic> variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in <jats:italic>ABCA12<\/jats:italic>. Our findings expand the phenotypic spectrum of patients with <jats:italic>ABCA12<\/jats:italic> variants.<\/jats:p>","DOI":"10.1111\/1346-8138.16967","type":"journal-article","created":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T07:24:56Z","timestamp":1695799496000},"page":"101-105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Patients with keratinization disorders due to <i>ABCA12<\/i> variants showing pityriasis rubra pilaris phenotypes"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5958-2875","authenticated-orcid":false,"given":"Takuya","family":"Takeichi","sequence":"first","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya 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University School of Medicine  Kurume Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruka","family":"Kobashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kochi Medical School, Kochi University  Nankoku Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takenori","family":"Yoshikawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7027-032X","authenticated-orcid":false,"given":"Hiroshi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University School of Medicine  Kurume Japan"},{"name":"Kurume University Institute of Cutaneous Cell Biology  Kurume 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