{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T15:57:45Z","timestamp":1792166265302,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,4,27]],"date-time":"2018-04-27T00:00:00Z","timestamp":1524787200000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Sj\u00f6gren\u2010Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes the most debilitating symptom of the disease within a few years, ichthyosis, although a major burden for the patient, takes a back seat. Optimum treatment of ichthyosis in these children and the effect of treatment on different aspects such as severity of the ichthyosis, pruritus, or quality of life of the patients\u2019 and their caregivers is not well established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Genetic background of eight patients from three families diagnosed clinically with <jats:styled-content style=\"fixed-case\">SLS<\/jats:styled-content> was determined with whole\u2010exome and Sanger sequencing. Clinical phenotypes, laboratory findings, magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>), and treatment of the ichthyosis with acitretin were assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients had the classical triad of Sj\u00f6gren\u2010Larsson syndrome. Genetic analysis revealed that one patient had a novel c.799\u20101 (+\/+) homozygous splicing mutation in the <jats:styled-content style=\"fixed-case\">ALDH<\/jats:styled-content>3A2 gene. Other patients had the c.683G&gt;A p.R228H (<jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>_000382.2) mutation in the same gene. Other manifestations included skeletal anomalies, enamel hypoplasia, bilateral T2\u2010hyperintensities in white matter, and moderate\u2013severe pruritus. Acitretin treatment in a maintenance dose of 0.25\u00a0mg\/kg\/day decreased the severity of ichthyosis in all children. It increased quality of life significantly in all of the children and their caregivers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We conclude that ichthyosis can be treated effectively with low\u2010dose acitretin in children with Sj\u00f6gren\u2010Larsson syndrome, and this treatment is associated with a significant improvement in the quality of life.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.14013","type":"journal-article","created":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T04:50:13Z","timestamp":1524891013000},"page":"843-848","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and molecular characterization and response to acitretin in three families with Sj\u00f6gren\u2010Larsson syndrome"],"prefix":"10.1111","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0931-5247","authenticated-orcid":false,"given":"Se\u00e7il","family":"Vural","sequence":"first","affiliation":[{"name":"Ludwig Maximillians University, Dermatology and Allergology Munich Germany"},{"name":"Ad\u0131yaman Besni State Hospital Adiyaman Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atay","family":"Vural","sequence":"additional","affiliation":[{"name":"Ad\u0131yaman Besni State Hospital Adiyaman Turkey"},{"name":"Department of Neurology Ko\u00e7 University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6561-196X","authenticated-orcid":false,"given":"Fulya","family":"Ak\u00e7imen","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation Neurodegeneration Research Laboratory (NDAL) Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I\u015f\u0131n S.","family":"Ba\u011fci","sequence":"additional","affiliation":[{"name":"Ludwig Maximillians University, Dermatology and Allergology Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceren","family":"Tunca","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation Neurodegeneration Research Laboratory (NDAL) Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asli","family":"G\u00fcndo\u011fdu Eken","sequence":"additional","affiliation":[{"name":"Suna and \u0130nan K\u0131ra\u00e7 Foundation Neurodegeneration Research Laboratory (NDAL) Bo\u011fazi\u00e7i University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ruzicka","sequence":"additional","affiliation":[{"name":"Ludwig Maximillians University, Dermatology and Allergology Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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