{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:46:27Z","timestamp":1791830787711,"version":"4.3.4"},"reference-count":10,"publisher":"PAGEPress Publications","issue":"3","license":[{"start":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T00:00:00Z","timestamp":1762128000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatol Reports"],"abstract":"<jats:p>We report a unique case of a 1-year-old boy presenting with nonpruritic erythematous patches and mild keratotic plaques, partially following the lines of Blaschko and mainly involving the extremities. Next-generation sequencing (NGS) revealed a heterozygous missense mutation c.4724C&gt;T (p.Thr1575Met) and a de novo mosaic deletion mutation c.6861_6869del (p.Leu2288_Gly2290del) in the ABCA12 (NM_173076.3) gene from the DNA of the patient\u2019s blood. Even more to the point, the lesional skin showed clinical improvement after 2 weeks of moisturizing treatment. Therefore, partial encapsulation treatment, widely used to enhance the percutaneous absorption of drugs, is suitable for mosaic ichthyosis given its localized skin lesions.<\/jats:p>","DOI":"10.4081\/dr.2025.10343","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T15:28:23Z","timestamp":1762183703000},"source":"Crossref","is-referenced-by-count":0,"title":["Recessive mosaicism in &lt;i&gt;ABCA12&lt;\/i&gt; causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis"],"prefix":"10.4081","volume":"18","author":[{"given":"Yuzhi","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2549","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"key":"44002","doi-asserted-by":"crossref","unstructured":"1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005;115:1777-84.","DOI":"10.1172\/JCI24834"},{"key":"44003","doi-asserted-by":"crossref","unstructured":"2. Akiyama M. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol 2011;3:107-12.","DOI":"10.4161\/derm.3.2.15136"},{"key":"44004","doi-asserted-by":"crossref","unstructured":"3. Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype\/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010;31:1090-6.","DOI":"10.1002\/humu.21326"},{"key":"44005","doi-asserted-by":"crossref","unstructured":"4. van Leersum FS, Seyger MMB, Theunissen TEJ, et al. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. Br J Dermatol 2020;182:208-11.","DOI":"10.1111\/bjd.18216"},{"key":"44006","doi-asserted-by":"crossref","unstructured":"5. Ishida-Yamamoto A. Erythrokeratodermia variabilis et progressiva. J Dermatol 2016;43:280-5.","DOI":"10.1111\/1346-8138.13220"},{"key":"44007","doi-asserted-by":"crossref","unstructured":"6. Common JE, O\u2019Toole EA, Leigh IM, et al. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol 2005;125:920-7.","DOI":"10.1111\/j.0022-202X.2005.23919.x"},{"key":"44008","doi-asserted-by":"crossref","unstructured":"7. Balci DD, Yaldiz M. Erythrokeratodermia variabilis: successful palliative treatment with acitretin. Indian J Dermatol Venereol Leprol 2008;74:649-50.","DOI":"10.4103\/0378-6323.45114"},{"key":"44009","doi-asserted-by":"crossref","unstructured":"8. Lee JS, Sung YH, Lee JH, Park JK. Erythrokeratodermia Variabilis with Alopecia Universalis. Ann Dermatol 1990;2:17-20.","DOI":"10.5021\/ad.1990.2.1.17"},{"key":"44010","doi-asserted-by":"crossref","unstructured":"9. Fukuda S, Hamada T, Ishii N, et al. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. Br J Dermatol 2012;166:218-21.","DOI":"10.1111\/j.1365-2133.2011.10516.x"},{"key":"44011","doi-asserted-by":"crossref","unstructured":"10. Thomas AC, Sinclair C, Mahmud N, et al. Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol 2008;158:611-3.","DOI":"10.1111\/j.1365-2133.2007.08277.x"}],"container-title":["Dermatology Reports"],"original-title":[],"link":[{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10343\/9786","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10343\/10113","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10343\/9785","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:02:47Z","timestamp":1791828167000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/view\/10343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,3]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,9,1]]}},"URL":"https:\/\/doi.org\/10.4081\/dr.2025.10343","relation":{},"ISSN":["2036-7406","2036-7392"],"issn-type":[{"value":"2036-7406","type":"electronic"},{"value":"2036-7392","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11,3]]}}}