{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T22:05:00Z","timestamp":1757455500659,"version":"3.37.3"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T00:00:00Z","timestamp":1730764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","award":["NCKUH-11104017"],"award-info":[{"award-number":["NCKUH-11104017"]}],"id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>ABCA12 is crucial for skin barrier function and is traditionally linked to severe congenital ichthyoses, such as harlequin ichthyosis. However, its genotype\u2013phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants. In addition to a milder phenotype, the palmoplantar keratoderma (PPK) in these cases had a distinct \u2018mosaic tile-like\u2019 pattern. Two cases with missense variants in the N-terminus of ABCA12 also presented an annular ichthyosis pattern resembling erythrokeratodermia variabilis et progressiva. Our findings suggest a correlation between ABCA12 missense variant location and clinical presentation, expanding the phenotypic spectrum associated with ABCA12 variants and highlighting the potential for annular patterns or \u2018mosaic tile-like\u2019 PPK in these patients.<\/jats:p>","DOI":"10.1093\/ced\/llae478","type":"journal-article","created":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T20:21:36Z","timestamp":1730492496000},"page":"642-647","source":"Crossref","is-referenced-by-count":1,"title":["Protean cutaneous manifestation caused by <i>ABCA12<\/i> variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma"],"prefix":"10.1093","volume":"50","author":[{"given":"Chih-Yu","family":"Chang","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]},{"name":"Education Center, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Chia","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]},{"name":"Education Center, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui-Ching","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Chen","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]},{"name":"International Center for Wound Repair and Regeneration, National Cheng Kung University , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-9964","authenticated-orcid":false,"given":"John","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , London ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]},{"name":"International Center for Wound Repair and Regeneration, National Cheng Kung University , Tainan ,","place":["Taiwan"]},{"name":"Institute of Clinical Medicine, National Cheng Kung University , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei Ting","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital , Tainan ,","place":["Taiwan"]},{"name":"International Center for Wound Repair and Regeneration, National Cheng Kung University , Tainan ,","place":["Taiwan"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,11,5]]},"reference":[{"key":"2025022416240143300_llae478-B1","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1002\/humu.21326","article-title":"ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype\/phenotype correlations and of pathogenetic concepts","volume":"31","author":"Akiyama","year":"2010","journal-title":"Hum Mutat"},{"key":"2025022416240143300_llae478-B2","doi-asserted-by":"crossref","first-page":"288","DOI":"10.3390\/genes15030288","article-title":"Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 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