Characteristics of oral health of patients with X-linked hypophosphatemia : case reports and literature review

Arhar, Ana (author), Pavlič, Alenka (author), Hočevar, Luka (author)

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.

• Language: English
• Keywords: oral health, patients, X-linked hypophosphatemia, case reports, literature review
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2024
• Number of pages: 11 str.
• Numbering: Vol. 10, iss. 1, art. 42
• PID: 20.500.12556/RUL-187472
• UDC: 616.31
• ISSN on article: 2056-807X
• DOI: 10.1038/s41405-024-00223-6
• COBISS.SI-ID: 199328259
• Publication date in RUL: 11.09.2026

Record is a part of a journal

• Title: BDJ open
• Shortened title: BDJ open
• Publisher: Springer Nature
• ISSN: 2056-807X
• COBISS.SI-ID: 528536089

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: ustno zdravje, bolniki, na kromosom X vezana hipofosfatemija (XLH), prikaz primerov, pregled literature

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0374
• Name: Preiskovanje orofacialnega področja za izboljšanje oralnega zdravja