# Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report

## TL;DR

A case report shows that dental issues in children with X-linked hypophosphatemic rickets can appear before other symptoms and require multidisciplinary care for better outcomes.

## Contribution

Highlights the importance of dental assessment in diagnosing XLH and the need for interdisciplinary management to improve systemic and dental outcomes.

## Key findings

- Early dental signs like periapical lesions may appear before systemic XLH symptoms.
- Multidisciplinary care improves dental preservation and systemic outcomes in XLH patients.
- Dental manifestations in XLH resist conventional treatment and persist despite systemic therapy.

## Abstract

What are the main findings?
•Early dental manifestations in children with X-linked hypophosphatemic rickets (XLH), including spontaneous periapical lesions and pulp necrosis in primary teeth, may appear before systemic symptoms and often resist conventional treatment.•Multidisciplinary management, integrating pediatric dentistry, orthodontics, and endocrinology, enables timely systemic therapy and dental preservation.

Early dental manifestations in children with X-linked hypophosphatemic rickets (XLH), including spontaneous periapical lesions and pulp necrosis in primary teeth, may appear before systemic symptoms and often resist conventional treatment.

Multidisciplinary management, integrating pediatric dentistry, orthodontics, and endocrinology, enables timely systemic therapy and dental preservation.

What are the implications of the main findings?
•Careful dental assessment of atypical, caries-free lesions can facilitate the early diagnosis of phosphate metabolism disorders.•Interdisciplinary collaboration helps optimize dental and systemic outcomes, including reduced extractions and maintenance of arch integrity.

Careful dental assessment of atypical, caries-free lesions can facilitate the early diagnosis of phosphate metabolism disorders.

Interdisciplinary collaboration helps optimize dental and systemic outcomes, including reduced extractions and maintenance of arch integrity.

Background: X-linked hypophosphatemic rickets (XLH) is a rare hereditary disorder characterized by renal phosphate wasting and impaired bone mineralization. Oral manifestations such as spontaneous periapical lesions and dental abscesses in the absence of caries or trauma may precede systemic features in XLH due to underlying dentin hypomineralization and enamel–dentin junction defects, and could serve as early diagnostic indicators. Case Report: We report on the case of a 4-year-old boy referred to our pediatric dental unit with recurrent intraoral fistulas persisting over the past year. Clinical examinations and an orthopantomogram revealed extensive root resorption and periapical pathology affecting multiple primary molars without evident caries or trauma. Laboratory investigations showed hypophosphatemia, elevated renal phosphate loss, and raised inflammatory markers (CRP (C-reactive protein) and granulocytes). Genetic testing of the child and his mother confirmed a diagnosis of X-linked hypophosphatemic rickets. Management: Due to behavioral challenges, treatment proceeded with difficulty over multiple visits. Endodontic treatment was initiated using a formalin–resorcinol technique; however, several primary molars developed progressive necrosis and required extraction. Orthodontic space maintainers were placed to preserve arch integrity and support future eruption. The patient remains under follow-up and is currently awaiting Burosumab therapy. Despite systemic management, spontaneous necroses of the primary molars persist, highlighting the refractory nature of dental involvement in XLH. Conclusions: This case underscores the pivotal role of pediatric dentists in recognizing systemic diseases through oral findings and demonstrates the challenges of managing XLH-related dental pathology, even under targeted systemic therapy. Early interdisciplinary collaboration is essential to optimize both dental and systemic outcomes in affected children.