{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:32:02Z","timestamp":1773419522055,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,2,27]]},"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>Sj\u00f6gren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and intellectual disability. This case report presents an early childhood female patient exhibiting the classic triad of symptoms, along with significant oral complications, including severe dental caries, enamel demineralisation and gingivitis. Molecular genetic testing confirmed a homozygous pathogenic variant in the ALDH3A2 (Aldehyde Dehydrogenase 3 family member 2) gene, establishing the diagnosis. The patient\u2019s management encompassed a comprehensive multidisciplinary approach, integrating dental interventions under general anaesthesia, systemic therapies for spasticity and cutaneous manifestations, and regular follow-up care. This case highlights the critical importance of recognising oral manifestations in SLS and emphasises the need for integrated oral healthcare within the broader therapeutic framework for affected individuals.<\/jats:p>","DOI":"10.1136\/bcr-2025-265760","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:20:13Z","timestamp":1773411613000},"page":"e265760","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Multisystem manifestations of Sj\u00f6gren-Larsson syndrome in early childhood and its dental implications"],"prefix":"10.1136","volume":"19","author":[{"given":"Sanjay Chikkarasinakere","family":"Jogigowda","sequence":"first","affiliation":[{"name":"Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7941-2467","authenticated-orcid":false,"given":"Karthikeya","family":"Patil","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritu","family":"Basavarajappa","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varusha Sharon","family":"Christopher","sequence":"additional","affiliation":[{"name":"Department of Oral Medicine and Radiology, JSS Dental College and Hospital, Mysore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"2026031307200511000_19.3.e265760.1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.2147\/TACG.S193969","article-title":"Sjogren-Larsson syndrome: Mechanisms and management","volume":"13","author":"Parayil Sankaran","year":"2020","journal-title":"Appl Clin Genet"},{"key":"2026031307200511000_19.3.e265760.2","first-page":"1","article-title":"Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study","volume":"113","author":"SJOGREN","year":"1957","journal-title":"Acta Psychiatr Neurol Scand Suppl"},{"key":"2026031307200511000_19.3.e265760.3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113379"},{"key":"2026031307200511000_19.3.e265760.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-52"},{"key":"2026031307200511000_19.3.e265760.5","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1002\/jimd.12275","article-title":"Disturbed brain ether lipid metabolism and histology in Sj\u00f6gren-Larsson syndrome","volume":"43","author":"Staps","year":"2020","journal-title":"J Inherit Metab Dis"},{"key":"2026031307200511000_19.3.e265760.6","doi-asserted-by":"crossref","unstructured":"Moftah N , Samahy E , Wadood AE , et al . Ichthyoses and Ichthyotic Syndromes. InAtlas of Common and Rare Genodermatoses Nature Switzerland 2024. doi:10.1007\/978-3-031-60788-2","DOI":"10.1007\/978-3-031-60788-2"},{"key":"2026031307200511000_19.3.e265760.7","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/humu.23679","article-title":"Genotype and phenotype variability in Sj\u00f6gren-Larsson syndrome","volume":"40","author":"Weustenfeld","year":"2019","journal-title":"Hum Mutat"},{"key":"2026031307200511000_19.3.e265760.8","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1177\/08830738211029390","article-title":"A Neurodegenerative Phenotype Associated With Sj\u00f6gren-Larsson Syndrome","volume":"36","author":"Warrack","year":"2021","journal-title":"J Child Neurol"},{"key":"2026031307200511000_19.3.e265760.9","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/ijd.14013","article-title":"Clinical and molecular characterization and response to acitretin in three families with Sj\u00f6gren-Larsson syndrome","volume":"57","author":"Vural","year":"2018","journal-title":"Int J Dermatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265760","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:20:17Z","timestamp":1773411617000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,3,13]]},"published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1136\/bcr-2025-265760"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265760","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]}}}