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Purpose <p>X-linked hypophosphataemia (XLH) represents the most prevalent genetic cause of phosphate wasting and is associated with skeletal deformities, muscular pain, and dental hypomineralisation. Dental complications, particularly spontaneous abscesses, may be the earliest clinical sign. Despite this, guidance on optimal dental care remains limited and there is a need for improved understanding of oral manifestations and management. This project aimed to review existing literature and evaluate the dental disease burden and management strategies in children with XLH.</p> Methods <p>Medline, Embase, and the Cochrane Register of Controlled Trials were searched on 7th December 2025 for English language publications describing the dental diagnosis and management of children with XLH. A service evaluation was conducted to explore the management of patients with XLH under the care of Charles Clifford Dental Hospital (CCDH) and Sheffield Children’s Hospital (SCH).</p> Results <p>Of the 37 articles identified, 21 met the inclusion criteria, with 6 relevant publications added. Findings revealed a high prevalence of spontaneous dental abscesses affecting both the primary and permanent dentition, alongside additional dental anomalies. Ten patients were included in the service evaluation; eight experienced abscesses associated with non-carious teeth, mainly affecting the primary dentition. Treatment approaches varied, and barriers to accessing specialist dental care were evident amongst patients.</p> Conclusion <p>Due to the rarity of XLH, both patients and clinicians face challenges in ensuring appropriate dental management. Without timely intervention, oral complications can result in premature tooth loss and reduced quality of life. Early specialist involvement and a multidisciplinary approach are essential to improve patient outcomes and reduce the burden of disease.</p>

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Dental disease burden and management in children and young people with X-linked hypophosphataemia: a scoping review and service evaluation

  • 期刊论文

  • 发表日期：

    2025年12月28日

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  • L. Whyatt,
  • S. Borg,
  • P. Arundel,
  • G. Greenacre,
  • D. Brierley,
  • J. Monteiro

摘要

Purpose

X-linked hypophosphataemia (XLH) represents the most prevalent genetic cause of phosphate wasting and is associated with skeletal deformities, muscular pain, and dental hypomineralisation. Dental complications, particularly spontaneous abscesses, may be the earliest clinical sign. Despite this, guidance on optimal dental care remains limited and there is a need for improved understanding of oral manifestations and management. This project aimed to review existing literature and evaluate the dental disease burden and management strategies in children with XLH.

Methods

Medline, Embase, and the Cochrane Register of Controlled Trials were searched on 7th December 2025 for English language publications describing the dental diagnosis and management of children with XLH. A service evaluation was conducted to explore the management of patients with XLH under the care of Charles Clifford Dental Hospital (CCDH) and Sheffield Children’s Hospital (SCH).

Results

Of the 37 articles identified, 21 met the inclusion criteria, with 6 relevant publications added. Findings revealed a high prevalence of spontaneous dental abscesses affecting both the primary and permanent dentition, alongside additional dental anomalies. Ten patients were included in the service evaluation; eight experienced abscesses associated with non-carious teeth, mainly affecting the primary dentition. Treatment approaches varied, and barriers to accessing specialist dental care were evident amongst patients.

Conclusion

Due to the rarity of XLH, both patients and clinicians face challenges in ensuring appropriate dental management. Without timely intervention, oral complications can result in premature tooth loss and reduced quality of life. Early specialist involvement and a multidisciplinary approach are essential to improve patient outcomes and reduce the burden of disease.