{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:20:08Z","timestamp":1792153208518,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T00:00:00Z","timestamp":1449619200000},"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":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self\u2010healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self\u2010improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB\/SICI was initially associated with mutations in the gene <jats:italic>TGM1<\/jats:italic>. However, some cases showing <jats:italic>ALOX12B<\/jats:italic> and <jats:italic>ALOXE3<\/jats:italic> gene mutations have also been reported. We report two cases of SHCB\/SICI showing homozygous mutations in the gene <jats:italic>CYP4F22<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/pde.12740","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T14:24:48Z","timestamp":1449671088000},"source":"Crossref","is-referenced-by-count":20,"title":["Two Cases of Autosomal Recessive Congenital Ichthyosis due to <i>CYP4F22<\/i> Mutations: Expanding the Genotype of Self\u2010Healing Collodion Baby"],"prefix":"10.1111","volume":"33","author":[{"given":"Lucero","family":"Noguera\u2010Morel","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Feito\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario La Paz Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Maldonado\u2010Cid","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario La Paz Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garc\u00eda\u2010Mi\u00f1\u00e1ur","sequence":"additional","affiliation":[{"name":"Clinical Genetics Section Institute of Medical and Molecular Genetics Hospital Universitario La Paz Universidad Aut\u00f3noma de Madrid Madrid Spain"},{"name":"Unit 753 Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik\u2010Jan","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetic, Genome Diagnostics Radboud University Medical Centre Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio","family":"Gonz\u00e1lez\u2010Sarmiento","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit\u2010Department of Medicine, IBSAL and IBMCC Universitiy Hospital of Salamanca and CSIC University of Salamanca Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"De Lucas\u2010Laguna","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario La Paz Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Hern\u00e1ndez\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Torrelo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0937"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.346"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12032.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.144.3.351"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.409"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.07.033"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302813"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi491"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.06.008"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12740","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12740","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:02:25Z","timestamp":1695538945000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,9]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/pde.12740"],"URL":"https:\/\/doi.org\/10.1111\/pde.12740","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,9]]}}}