{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T05:19:47Z","timestamp":1788067187933,"version":"build-2784847793"},"reference-count":33,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>\n                    Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane that encases the newborn, which leads to significant medical challenges. This case report describes a male infant born at 35\u2009weeks and 6 days of gestation who presented with the collodion baby syndrome. The present case exhibited a nonbullous congenital ichthyosiform erythroderma\u2013like phenotype, characterized by diffuse erythema and fine scaling. Genetic analysis revealed two compound heterozygous mutations in\n                    <jats:italic>TGM1<\/jats:italic>\n                    : c.425G&gt;T (p.Arg142Leu) in exon 3, previously reported as a pathogenic hotspot in nonbullous congenital ichthyosiform erythroderma, and a novel mutation, c.1198A&gt;C (p.Asn400His) in exon 8, which has not only been associated with lamellar ichthyosis but has also been detected in nonbullous congenital ichthyosiform erythroderma. A comprehensive treatment strategy focused on symptom alleviation and supportive care led to significant improvement, and the infant was discharged after 6 days of hospitalization. This case highlights the importance of early diagnosis, multidisciplinary care, and genetic testing in managing autosomal recessive congenital ichthyosis. The identification of novel\n                    <jats:italic>TGM1<\/jats:italic>\n                    mutations contributes to the expanding mutation spectrum and may inform future diagnostic and therapeutic approaches.\n                  <\/jats:p>","DOI":"10.1177\/03000605251382379","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:21:51Z","timestamp":1759969311000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report"],"prefix":"10.1177","volume":"53","author":[{"given":"Wang","family":"Lixiang","sequence":"first","affiliation":[{"name":"Division of Neonatology, Qingdao Huangdao District People\u2019s Hospital, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2651-3210","authenticated-orcid":false,"given":"Li","family":"Xianghong","sequence":"additional","affiliation":[{"name":"Division of Neonatology, the Affiliated Hospital of Qingdao University, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1156-0716","authenticated-orcid":false,"given":"Yang","family":"Lexia","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Qingdao Huangdao District People\u2019s Hospital, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Hongmin","sequence":"additional","affiliation":[{"name":"Division of Neonatology, the Affiliated Hospital of Qingdao University, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Liangliang","sequence":"additional","affiliation":[{"name":"Division of Neonatology, the Affiliated Hospital of Qingdao University, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,8]]},"reference":[{"key":"e_1_3_5_2_2","first-page":"270","article-title":"Autosomal recessive congenital ichthyosis","volume":"104","author":"Rodr\u00edguez-Pazos L","year":"2013","unstructured":"Rodr\u00edguez-Pazos L, Ginarte M, Vega A, et\u00a0al. Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr 2013; 104: 270\u2013284.","journal-title":"Actas Dermosifiliogr"},{"key":"e_1_3_5_3_2","first-page":"e37418","article-title":"A case report of a collodion baby: an autosomal recessive genodermatosis","volume":"15","author":"Quazi S","year":"2023","unstructured":"Quazi S, Singh A, Khan K, et\u00a0al. A case report of a collodion baby: an autosomal recessive genodermatosis. Cureus 2023; 15: e37418.","journal-title":"Cureus"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.8329"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/dth.14628"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.57"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.06.021"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.5021\/ad.21.134"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20952"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12410"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00044"},{"key":"e_1_3_5_13_2","doi-asserted-by":"publisher","DOI":"10.15761\/JIC.1000283"},{"key":"e_1_3_5_14_2","first-page":"583","article-title":"Compound heterozygous mutations in TGM1 causing a severe form of lamellar ichthyosis: a case report","volume":"15","author":"Zeng J","year":"2022","unstructured":"Zeng J, Shan B, Guo L, et\u00a0al. Compound heterozygous mutations in TGM1 causing a severe form of lamellar ichthyosis: a case report. Pharmgenomics Pers Med 2022; 15: 583\u2013588.","journal-title":"Pharmgenomics Pers Med"},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14675"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/706827"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2418"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00104.x"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.1159\/000349914"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18211"},{"key":"e_1_3_5_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2012.1947"},{"key":"e_1_3_5_22_2","first-page":"adv00285","article-title":"Novel TGM1 gene mutation in a Japanese patient with bathing suit ichthyosis","volume":"100","author":"Tani N","year":"2020","unstructured":"Tani N, Yamada N, Okazaki T, et\u00a0al. Novel TGM1 gene mutation in a Japanese patient with bathing suit ichthyosis. Acta Derm Venereol 2020; 100: adv00285.","journal-title":"Acta Derm Venereol"},{"key":"e_1_3_5_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bgm.2013.07.011"},{"key":"e_1_3_5_24_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1765"},{"key":"e_1_3_5_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.031"},{"key":"e_1_3_5_26_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2003.01295.x"},{"key":"e_1_3_5_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.060905"},{"key":"e_1_3_5_28_2","doi-asserted-by":"publisher","DOI":"10.1086\/515498"},{"key":"e_1_3_5_29_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.128645"},{"key":"e_1_3_5_30_2","unstructured":"Paller AS Butala S. UpToDate. Inherited ichthyosis: overview of management (2022 accessed 11 August 2023)."},{"key":"e_1_3_5_31_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-1313"},{"key":"e_1_3_5_32_2","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13410"},{"key":"e_1_3_5_33_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-017-0313-x"},{"key":"e_1_3_5_34_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23052506"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605251382379","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605251382379","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605251382379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:51:00Z","timestamp":1777459860000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605251382379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":33,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1177\/03000605251382379"],"URL":"https:\/\/doi.org\/10.1177\/03000605251382379","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"article-number":"03000605251382379"}}