Familial hypophosphatemic vitamin D-resistant rickets: Dental findings andhistologic study of teeth

A case of familial hypophosphatemic vitamin D-resistant rickets or X-linked hypophosphatemia (XLH) accompanied by specific systemic and dental finding s is reported. A 15-year-old boy with XLH visited our facility complaining of a toothache in the left lower canine region. Two other family members of the patient, his younger sister and their mother, also had XLH, whereas th e other 2 members, his younger brother and father, are healthy. Those with XLH show systemic signs of the disease, such as growth retardation, limb de formity, and spinal curvature disorders: however, these symptoms are more s evere in the patient than in the others. The patient had multiple periodont al abscesses, but no evidence of dental caries, trauma, or periodontal dise ase on the corresponding teeth at the time of his oral examination. A radio graphic examination showed root dysplasia and enlarged pulp chambers. A histologic examination of an extracted third molar showed marked globular dentin and an increased predentin width. The abscess was thought to be cau sed by pulpal infection, which came from bacterial invasion through enamel cracks and dentinal microcleavage of the teeth. The treatments provided in this case are discussed.