{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T07:52:38Z","timestamp":1777017158978,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We describe an 11\u2010year\u2010old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in\n                    <jats:italic>CAST,<\/jats:italic>\n                    the pathogenicity of which was confirmed using blood\u2010derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid\u00ae; an emulsion of fat\u2010soluble vitamins and lipofundin\u2010MCT\/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic\n                    <jats:italic>CAST<\/jats:italic>\n                    variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.\n                  <\/jats:p>","DOI":"10.1111\/cge.13919","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T09:32:28Z","timestamp":1610271148000},"page":"572-576","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp>PLACK<\/scp>\n                    syndrome is potentially treatable with intralipids"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8589-4872","authenticated-orcid":false,"given":"Zinab A.","family":"Sawan","sequence":"first","affiliation":[{"name":"Department of Pediatrics King Abduaziz University, Faculty of Medicine  Jeddah Kingdom of Saudi Arabia"},{"name":"Department of Pediatrics, Division of Gastroenterology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Almehaidib","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0948-7102","authenticated-orcid":false,"given":"Yousef","family":"Binamer","sequence":"additional","affiliation":[{"name":"Department of Dermatology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Monies","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"},{"name":"Saudi Human Genome Program King Abdul\u2010Aziz City for Science and Technology  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid A.","family":"Alsaleem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wajeeh","family":"Aldekhail","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4158-341X","authenticated-orcid":false,"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Abanemai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04166.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1986.01660200091023"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.026"},{"key":"e_1_2_8_5_1","unstructured":"Anon.Genus Pharmaceuticals Acitretin: UK summary of product characteristics.https:\/\/www.medicines.org.uk\/emc\/medicine\/28610. 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