{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:50:46Z","timestamp":1785689446036,"version":"3.56.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Dermatol"],"abstract":"<jats:p>Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the &lt;i&gt;SLC27A4&lt;\/i&gt; gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (&lt;i&gt;c&lt;\/i&gt;.&lt;i&gt;1&lt;\/i&gt; A&amp;#x3e; &lt;i&gt;G&lt;\/i&gt;, &lt;i&gt;p&lt;\/i&gt;.&lt;i&gt;Met1Val&lt;\/i&gt;) in the &lt;i&gt;SLC27A4&lt;\/i&gt; gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed. <\/jats:p>","DOI":"10.1159\/000519035","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T21:08:43Z","timestamp":1632258523000},"page":"470-473","source":"Crossref","is-referenced-by-count":8,"title":["Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis"],"prefix":"10.1159","volume":"13","author":[{"given":"Sultan","family":"Al-Khenaizan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7106-3744","authenticated-orcid":false,"given":"Asma","family":"AlSwailem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed Ali","family":"AlBalwi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,9,21]]},"container-title":["Case Reports in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519035","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519035","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:21:42Z","timestamp":1745421702000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,21]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,1,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000519035","archive":["Portico"],"relation":{},"ISSN":["1662-6567"],"issn-type":[{"value":"1662-6567","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,21]]}}}