20.500.12556/RUL-187472 Characteristics of oral health of patients with X-linked hypophosphatemia case reports and literature review Background: Oral health is impaired in X-linked hypophosphatemia (XLH), resulting in delayed dental development, malocclusion, and radiographic abnormalities. This study investigates the oral manifestations in Slovenian XLH patients, focusing on enamel and dentin abnormalities and a literature review of spontaneous periapical abscesses in XLH cases. Objectives: To report XLH patients with specific oral signs and symptoms, histological analysis of affected teeth, and review of reported cases of XLH patients with spontaneous periapical abscesses. Methods: Case reports: Seven XLH patients from the National Registry of Patients with Rare Diseases underwent a detailed oral examination, including X-ray reviews. The patients who were expected to have tooth exfoliation or extraction were asked to donate their teeth for histological analysis by scanning electron microscopy. Literature search: A literature search of four electronic databases and a manual bibliography search aimed to identify documented cases of XLH with periapical abscesses up to January 21, 2024. Inclusion criteria were confirmed XLH patients with periapical abscesses in English peer-reviewed publications. Results: Tooth samples from three XLH patients showed reduced dentin mineralisation, affecting one-third to one-half of the outer dentin. Inadequate mineralisation, uneven dentin tubules, and cracks and chipping in the enamel were observed, indicating mineralisation deviations. Similar cracks extended into the dentin and were also present in the root of the examined tooth. Based on the content of the 75 items identified in the search, spontaneous abscesses are not uncommon in patients with XLH. Conclusions: XLH significantly affects patients' lives and requires lifelong treatment. Dental examinations consistently revealed oral problems, including malocclusion. Histological analysis confirmed structural changes, especially in the dentin. Despite continued treatment, XLH patients may have an increased risk of oral pathologies. Further research is needed to understand the impact of XLH and its treatment on dental health. oral health patients X-linked hypophosphatemia case reports literature review ustno zdravje bolniki na kromosom X vezana hipofosfatemija (XLH) prikaz primerov pregled literature true false true Angleški jezik Slovenski jezik Članek v reviji 2026-09-11 08:30:01 2026-09-11 08:30:07 2026-09-12 04:29:24 0000-00-00 00:00:00 2024 0 0 11 str. iss. 1, art. 42 Vol. 10 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.31 2056-807X 10.1038/s41405-024-00223-6 199328259 RAZ_Arhar_Ana_2024.pdf RAZ_Arhar_Ana_2024.pdf 1 144D30ED4325FA3EDA65740D24529836 83e0001a68c326c7aabe945e40bbb9fedc97d11403e0c626dd8803b7f90b48f8 747281a8-adaa-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=247122 https://www.nature.com/articles/s41405-024-00223-6 1 362b031a-adaa-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=247106 Medicinska fakulteta 0 0 0