{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T06:49:35Z","timestamp":1757573375587,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,2,17]]},"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (<jats:italic>ALOX12B<\/jats:italic>), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.<\/jats:p>","DOI":"10.1136\/bcr-2022-250077","type":"journal-article","created":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T10:55:15Z","timestamp":1677581715000},"page":"e250077","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9945-0567","authenticated-orcid":false,"given":"Joana Valente","family":"Dias","sequence":"first","affiliation":[{"name":"Paediatric Department, Hospital Beatriz \u00c2ngelo, Loures, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1tia","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Beatriz \u00c2ngelo, Loures, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara No\u00e9me","family":"Prado","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Beatriz \u00c2ngelo, Loures, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo","family":"Cavaco","sequence":"additional","affiliation":[{"name":"Paediatric Department, Hospital Beatriz \u00c2ngelo, Loures, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,2,28]]},"reference":[{"key":"2025082710544705000_16.2.e250077.1","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.12688\/f1000research.8584.1","article-title":"Recent advances in understanding ichthyosis pathogenesis","volume":"5","author":"Marukian","year":"2016","journal-title":"F1000Res"},{"key":"2025082710544705000_16.2.e250077.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yadr.2007.07.011"},{"key":"2025082710544705000_16.2.e250077.3","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s40257-017-0313-x","article-title":"Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment","volume":"19","author":"Vahlquist","year":"2018","journal-title":"Am J Clin Dermatol"},{"key":"2025082710544705000_16.2.e250077.4","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2012.11.001"},{"key":"2025082710544705000_16.2.e250077.5","doi-asserted-by":"publisher","DOI":"10.1177\/0009922811430348"},{"key":"2025082710544705000_16.2.e250077.6","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13243"},{"key":"2025082710544705000_16.2.e250077.7","doi-asserted-by":"publisher","DOI":"10.2165\/11311070-000000000-00000"},{"key":"2025082710544705000_16.2.e250077.8","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13023-016-0384-4","article-title":"Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis","volume":"11","author":"Diociaiuti","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"2025082710544705000_16.2.e250077.9","first-page":"SJ01","article-title":"Congenital ichthyosis-collodion baby case report","volume":"10","author":"Srivastava","year":"2016","journal-title":"J Clin Diagn Res"},{"key":"2025082710544705000_16.2.e250077.10","doi-asserted-by":"crossref","DOI":"10.1136\/bcr.02.2012.5823","article-title":"Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia","volume":"2012","author":"Dereksson","year":"2012","journal-title":"BMJ Case Rep"},{"key":"2025082710544705000_16.2.e250077.11","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1111\/bjd.17203","article-title":"Management of congenital ichthyoses: European guidelines of care, part one","volume":"180","author":"Mazereeuw-Hautier","year":"2019","journal-title":"Br J Dermatol"},{"key":"2025082710544705000_16.2.e250077.12","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1001\/jamadermatol.2015.0694","article-title":"Practical events in the management of a collodion baby","volume":"151","author":"Nguyen","year":"2015","journal-title":"JAMA Dermatol"},{"key":"2025082710544705000_16.2.e250077.13","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1111\/bjd.16882","article-title":"Management of congenital ichthyoses: European guidelines of care, part two","volume":"180","author":"Mazereeuw-Hautier","year":"2019","journal-title":"Br J Dermatol"},{"key":"2025082710544705000_16.2.e250077.14","doi-asserted-by":"crossref","first-page":"25","DOI":"10.29021\/spdv.77.1.1013","article-title":"Ictioses cong\u00e9nitas: S\u00e9rie de 11 casos dA consulta multidisciplinar de dermatologia pedi\u00e1trica, centro hospitalar E universit\u00e1rio de lisboa central","volume":"77","author":"Borges","year":"2019","journal-title":"SPDV"},{"key":"2025082710544705000_16.2.e250077.15","first-page":"10949","article-title":"Clinical characteristics and prognosis of collodion babies","volume":"11","author":"Chi","year":"2018","journal-title":"Int J Clin Exp Med"},{"key":"2025082710544705000_16.2.e250077.16","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.ad.2012.07.011","article-title":"Lamellar ichthyosis due to ALOX12B mutation","volume":"104","author":"Os\u00f3rio","year":"2013","journal-title":"Actas Dermosifiliogr"},{"key":"2025082710544705000_16.2.e250077.17","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.144.3.351"},{"key":"2025082710544705000_16.2.e250077.18","doi-asserted-by":"crossref","DOI":"10.3390\/ijms23052506","article-title":"Current strategies for the gene therapy of autosomal recessive congenital ichthyosis and other types of inherited ichthyosis","volume":"23","author":"Chulpanova","year":"2022","journal-title":"Int J Mol Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:54:52Z","timestamp":1756317292000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":18,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,2,28]]},"published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1136\/bcr-2022-250077"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250077","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}