Dental abnormalities and early diagnosis of hyperphosphatasemia

Dental hard tissue abnormalities have never been described as part of the symptoms associated with hyperphosphatasemia. Fourteen teeth obtained from a young man, who had a mild form of hyperphosphatasemia, were analyzed using scanning electron microscopy (SEM), secondary ion mass spectroscopy (SIMS), X-ray diffraction (XRD), and infrared (IR) spectroscopy. SEM revealed a thin enamel, presenting a prismatic structure with many pits, and atypical cementum and dentin showing numerous resorption areas. The X-ray diffractograms revealed poorly crystalline hydroxyapatite associated with alpha-tricalcium phosphate and magnesium hydroxide phases. SIMS data showed high Ca concentrations: 40.5 weight % ¿wt%; standard deviation (SD = 0.13) and 42.5 wt% (SD = 1.03) in enamel and dentin respectively, and high Ca/P weight ratios: 2.28 in the enamel, 2.65 in the dentin. The lack of crystallinity may be linked to the high content of proteins and magnesium adsorbed onto apatite. This study demonstrates the need for thorough radiographical and biological investigations for skeletal abnormalities, even in the absence of systemic symptoms, when generalized dental abnormalities of both enamel and dentin are observed.