{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:50:30Z","timestamp":1773733830796,"version":"3.50.1"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X-linked ichthyosis (XLI) is a genetic skin disorder caused by defects in the steroid sulfatase (\n                      <jats:italic>STS<\/jats:italic>\n                      ) gene, characterized by dry skin and excessive scaling. The majority of patients (90%) have deletions of the\n                      <jats:italic>STS<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>Herein, we report a 5-year-old boy who presented with significant seizures and ichthyosiform skin lesions, along with short stature and attention deficit hyperactivity disorder (ADHD). His skin exhibited an ichthyosiform appearance, diffusely distributed over the entire body. The seizures were characterized by upward gaze deviation and flaccidity of all four limbs, lasting approximately 2\u202fmin. Whole-exome sequencing (WES) identified a pathogenic deletion of approximately 1.47\u202fMb at the Xp22.31 locus in the proband. The father carried the wild-type allele, while the mother was found to have a heterozygous deletion of approximately 1.14\u202fMb at Xp22.31. This variant was classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We report a rare case of Xp22.31 deletion-associated seizures accompanied by ichthyosis, with concomitant short stature and ADHD. This case further highlights our understanding of the complexity of XLI.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1699866","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:26:10Z","timestamp":1773725170000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment"],"prefix":"10.3389","volume":"13","author":[{"given":"Yangfan","family":"Qi","sequence":"first","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangzhu","family":"Lin","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqiu","family":"Zhou","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Jiang","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"241","DOI":"10.33588\/rn.5404.2011562","article-title":"X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion","volume":"54","author":"Carrascosa-Romero","year":"2012","journal-title":"Rev Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1111\/bjd.16826","article-title":"Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series","volume":"179","author":"Rodrigo-Nicol\u00e1s","year":"2018","journal-title":"Br J Dermatol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1136\/jmg.2008.057729","article-title":"X-linked ichthyosis (steroid sulfatase deficiency) is associated with 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patients","volume":"28","author":"Diociaiuti","year":"2019","journal-title":"Exp Dermatol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1111\/ced.13741","article-title":"A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism","volume":"44","author":"Ohyama","year":"2019","journal-title":"Clin Exp Dermatol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1055\/s-0032-1330280","article-title":"X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms","volume":"81","author":"Pehlke","year":"2013","journal-title":"Fortschr Neurol Psychiatr"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1016\/j.jaad.2009.04.028","article-title":"X-linked ichthyosis: an oculocutaneous genodermatosis","volume":"62","author":"Fernandes","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"ref10","first-page":"1192","article-title":"The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis","volume":"9","author":"Abdel-Hamed","year":"2010","journal-title":"J Drugs Dermatol"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1093\/ced\/llad033","article-title":"Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis","volume":"48","author":"Murrell","year":"2023","journal-title":"Clin Exp Dermatol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"934952","DOI":"10.3389\/fgene.2022.934952","article-title":"Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis","volume":"13","author":"Tang","year":"2022","journal-title":"Front Genet"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1699866\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:26:11Z","timestamp":1773725171000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1699866\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,17]]},"references-count":12,"alternative-id":["10.3389\/fmed.2026.1699866"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2026.1699866","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,17]]},"article-number":"1699866"}}