X-linked hypophosphatemia in childhood: dental involvement, diagnosis, and treatment

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ABSTRACT

Aim

X-linked hypophosphatemia (XLH) is a rare genetic disorder that causes skeletal deformities, growth retardation and oral complications, being dental abscesses the most frequent reported problem. Patient management is often poor due to a lack of care pathways, particularly in pediatric settings, and this highlights the need for updated clinical protocols. This study emphasises the importance of the role of pediatric dentists in the early recognition of XLH and in the multidisciplinary management of these patients, including early diagnosis, personalised therapies, and prevention to improve oral health and overall well-being.

Methods

A comprehensive search was conducted to identify studies focused on dental aspects in XLH pediatric patients published from 2020 and 2024. Databases such as the Cochrane Library and MEDLINE via PubMed databases were searched using terms and MeSH terms including X-linked hypophosphatemia, X-linked hypophosphatemic rickets, XLH, teeth, dental, child, oral health, and oral health-related quality of life. Only English-language articles were included.

Results

A total of 135 articles were initially retrieved. After reviewing the titles and abstracts, sixty-four articles were selected for full-text evaluation to understand the issues related to dental involvement, the occurrence of abscesses, alterations in dental hard tissues, and the potential oral effects of systemic therapies. Ten articles involving studies on mice were excluded, as well as forty-two articles focusing on the systemic aspects of the condition without mentioning dental involvement. Additionally, eight articles on adult patients and eleven articles related to other forms of rickets were also excluded.

Conclusion

In the end the complexity and rarity of XLH often results in diagnostic delays, compromising either dental or general treatment. For these reasons, the need for early diagnosis and integrated care is evident; development of specific guidelines to improve outcomes and oral health-related quality of life in growing patients is strongly required.and nutritional disorders. The study emphasises the importance of including a dental evaluation in the follow-up of premature infants from the first months of life.

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