{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T18:18:58Z","timestamp":1758478738395,"version":"3.35.0"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Therapeutic options are limited in cases of autosomal recessive congenital ichthyosis with inadequate response to topical agents. Acitretin is the current standard of care in these patients, but its use is limited by cumulative toxicity when prolonged therapy is needed in children. There is evidence to suggest that high doses of vitamin D can normalize keratinization and suppress inflammatory cytokines. Here, we report a patient with lamellar ichthyosis with a novel mutation in the Nipa\u2010like Domain\u2010Containing 4 (<jats:italic>NIPAL4<\/jats:italic>) gene. High dose short\u2010term vitamin D therapy was administered with a dramatic and sustained clinical response.<\/jats:p>","DOI":"10.1111\/pde.15484","type":"journal-article","created":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T06:49:11Z","timestamp":1701240551000},"page":"348-350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Lamellar ichthyosis with a novel <scp><i>NIPAL4<\/i><\/scp> variant showing dramatic response to high\u2010dose vitamin D therapy"],"prefix":"10.1111","volume":"41","author":[{"given":"Femina","family":"Azeez","sequence":"first","affiliation":[{"name":"Department of Dermatology Government Medical College  Kottayam Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minu","family":"Sunil","sequence":"additional","affiliation":[{"name":"Department of Dermatology Government Medical College  Kottayam Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1189-2791","authenticated-orcid":false,"given":"Geethanjali","family":"Sahadevan","sequence":"additional","affiliation":[{"name":"Department of Dermatology Government Medical College  Kottayam Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajithkumar","family":"Kidangazhiathmana","sequence":"additional","affiliation":[{"name":"Department of Dermatology Government Medical College  Kottayam Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Dermatology Government Medical College  Kottayam Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23883"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3887"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015\u20101313"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16882"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom11121865"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:22:39Z","timestamp":1738333359000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,28]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/pde.15484"],"URL":"https:\/\/doi.org\/10.1111\/pde.15484","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2023,11,28]]},"assertion":[{"value":"2023-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}