{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:55:18Z","timestamp":1791269718739,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T00:00:00Z","timestamp":1370995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chanarin\u2013Dorfman syndrome (<jats:styled-content style=\"fixed-case\">CDS<\/jats:styled-content>) is a rare nonlysosomal neutral lipid storage disorder characterized by congenital ichthyosis, lipid vacuoles in leukocytes (Jordan's anomaly), and hepatomegaly. The authors herein report an 18\u2010month\u2010old boy with ichthyosis and hepatomegaly diagnosed with <jats:styled-content style=\"fixed-case\">CDS<\/jats:styled-content> and confirmed to have a novel c.506\u20133C&gt;G mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">ABHD<\/jats:styled-content>5\/<jats:styled-content style=\"fixed-case\">CGI<\/jats:styled-content>\u201058<\/jats:italic> gene. Our case also illustrates that retinoids such as acitretin could be useful in the treatment of skin manifestations in <jats:styled-content style=\"fixed-case\">CDS<\/jats:styled-content> even in the presence of liver derangement.<\/jats:p>","DOI":"10.1111\/pde.12170","type":"journal-article","created":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T06:05:38Z","timestamp":1371017138000},"page":"612-614","source":"Crossref","is-referenced-by-count":17,"title":["Acitretin\u2010Responsive Ichthyosis in Chanarin\u2013Dorfman Syndrome with a Novel Mutation in the <i><scp>ABHD<\/scp>5\/<scp>CGI<\/scp>\u20105<\/i>8 Gene"],"prefix":"10.1111","volume":"31","author":[{"given":"Rangan","family":"Srinivasaraghavan","sequence":"first","affiliation":[{"name":"Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research Pondicherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriram","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research Pondicherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumesh","family":"Chandar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research Pondicherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Cassandrini","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Stella Maris Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subramanian","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jawaharlal Institute of Postgraduate Medical Education and Research Pondicherry India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"Center of Myology Pediatric Neurology and Muscle Diseases Unit Department of Neuroscience and Rehabilitation IRCCS Giannina Gaslini Institute Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"IRCCS Fondazione Stella Maris Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,12]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200417"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/324121"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.30650"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2011.04164.x"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.28.16644"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12170","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T16:04:00Z","timestamp":1695485040000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,12]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1111\/pde.12170"],"URL":"https:\/\/doi.org\/10.1111\/pde.12170","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,12]]}}}