{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T13:09:16Z","timestamp":1784034556016,"version":"3.55.0"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,11,13]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>The interplay between skin and neurological disorders is well recognised, given the shared embryological origin of both skin and nervous system cells from the ectoderm. Certain cutaneous manifestations may guide the neurological workup and contribute to a more accurate diagnosis. We report a 20-year-old man with drug-resistant epilepsy and developmental regression since childhood, who had characteristic skin findings compatible with ichthyosis. Despite the broad differential diagnosis for these neurological manifestations, recognising the skin involvement was important in guiding the genetic investigation, ultimately narrowing the diagnosis to the group of neuro-ichthyotic syndromes.<\/jats:p>","DOI":"10.1136\/pn-2025-004881","type":"journal-article","created":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:20:31Z","timestamp":1764872431000},"page":"376-378","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Neuroichthyosis: the interplay between brain and skin"],"prefix":"10.1136","volume":"26","author":[{"given":"Julia de Oliveira Xavier","family":"Ramos","sequence":"first","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5250-8602","authenticated-orcid":false,"given":"Pedro","family":"Fraiman","sequence":"additional","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7185-8309","authenticated-orcid":false,"given":"Thiago","family":"Yoshinaga Tonholo Silva","sequence":"additional","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rubens Paulo Ara\u00fajo","family":"Salom\u00e3o","sequence":"additional","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando G P","family":"Barsottini","sequence":"additional","affiliation":[{"name":"Division of General Neurology, Ataxia and Neurorheumatology Unit, Department of Neurology and Neurosurgery, Universidade Federal de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,12,4]]},"reference":[{"key":"2026071405250894000_26.4.376.1","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.bbalip.2013.11.009","article-title":"Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis","volume":"1841","author":"Elias","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"2026071405250894000_26.4.376.2","doi-asserted-by":"crossref","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":"2026071405250894000_26.4.376.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057729"},{"key":"2026071405250894000_26.4.376.4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1055\/s-0032-1306390","article-title":"Recognition and diagnosis of neuro-ichthyotic syndromes","volume":"32","author":"Rizzo","year":"2012","journal-title":"Semin Neurol"},{"key":"2026071405250894000_26.4.376.5","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1093\/ced\/llaf221","article-title":"The importance of cardiac screening in X-linked ichthyosis: a plea","volume":"50","author":"Davies","year":"2025","journal-title":"Clin Exp Dermatol"},{"key":"2026071405250894000_26.4.376.6","doi-asserted-by":"crossref","unstructured":"Wren GH , Davies W . Cardiac arrhythmia in individuals with steroid sulfatase deficiency (x-linked ichthyosis): Candidate anatomical and biochemical pathways. Essays Biochem Portland Press Ltd, 2024:423\u20139.","DOI":"10.1042\/EBC20230098"},{"key":"2026071405250894000_26.4.376.7","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1111\/cge.12828","article-title":"A practical approach to ichthyoses with systemic manifestations","volume":"91","author":"Saral","year":"2017","journal-title":"Clin Genet"},{"key":"2026071405250894000_26.4.376.8","doi-asserted-by":"publisher","DOI":"10.1055\/s-0045-1806922"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2025-004881","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T12:25:50Z","timestamp":1784031950000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2025-004881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,4]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,7,14]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/pn-2025-004881"],"URL":"https:\/\/doi.org\/10.1136\/pn-2025-004881","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,4]]}}}