Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case Report

X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe, through an 8-year follow-up case report, the clinical approach adopted in managing dental features in both primary and permanent dentition in a child diagnosed with XLHR. The oral manifestations were mainly premature exfoliation of primary teeth with no history of dental caries or trauma, spontaneous abscesses, enamel hypoplasia, and facial cellulite. The panoramic X-ray revealed pathognomonic features of XLHR, such as high pulp horns extending up to the dentin-enamel junction, unclear limits of the lamina dura, hypoplastic alveolar ridge, and taurodontism. To manage these dental alterations, space maintainer, coverage of the hypoplastic teeth and endodontic treatment were carried out. Through this 8-year follow-up, we documented the dental management of a child with XLHR, emphasizing the unique oral manifestations and their successful treatment. This case reinforces the importance of early and regular dental interventions to improve the quality of life and functional outcomes for patients with XLHR.