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X-linked hypophosphatemic rickets: Enamel abnormalities and oral clinical findings

Authors

  • Ilaria Cremonesi,

    Corresponding author
    1. Department of Biomedical and Neuromotor Sciences (DIBINEM), Dentistry for Special Need Patients Division, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
    • Address for reprints: Ilaria Cremonesi, DIBINEM, University of Bologna, Via San Vitale 59, 40125 Bologna, Italy.

      E-mail: ilacrem@hotmail.com

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  • Cesare Nucci,

    1. Department Biomedical and Neuromotor Sciences (DIBINEM), Endodontics Division, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Giovanni D'Alessandro,

    1. Department of Biomedical and Neuromotor Sciences (DIBINEM), Dentistry for Special Need Patients Division, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Nadia Alkhamis,

    1. Department of Biomedical and Neuromotor Sciences (DIBINEM), Dentistry for Special Need Patients Division, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Silvia Marchionni,

    1. Department of Biomedical and Neuromotor Sciences (DIBINEM), SEM Laboratory, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Gabriela Piana

    1. Department of Biomedical and Neuromotor Sciences (DIBINEM), Dentistry for Special Need Patients Division, Dental School, Alma Mater Studiorum, University of Bologna, Bologna, Italy
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  • Conflict of interest: none.
  • Author contribution: Ilaria Cremonesi, conceptualized, designed, acquisition of data and statistical analysis. Cesare Nucci, interpretation of the data, critical revision, and approval of the article. Giovanni D'Alessandro, data analysis, critical revision of the article. Nadia Alkhamis, conceptualized, designed, acquisition of data, and statistical analysis. Marchionni Silvia, SEM images. Gabriela Piana, interpretation of the data, critical revision, and approval of the article.

Summary

X-linked hypophosphatemia (XLH) is a genetic disorder related to alterations in bones and teeth formation, due to low levels of phosphate in blood. Oral findings in XLH have been enamel and dentine abnormalities, high pulp horns, large pulp chambers, and some cases of periapical abscesses related to teeth without caries or traumatic injuries. The aim of our study was to assess the presence of enamel alterations, such as microclefts and/or structure defects in patients with XLH and give guidelines of prevention of XLH dental complications. History taking, oral clinical and radiological examination in 10 young patients affected by XLH (average age of 9) and in 6 patients without XLH (average age of 8). Impressions were performed on the vestibular surfaces of teeth in order to obtain replicas. The replicas were analyzed using scanning electron microscope (SEM) and compared to replicas of control group. The images of replicas of XLH patients showed deep microclefts and irregular enamel surface structure compared to replicas of control group. The replica of a patient with spontaneous periapical abscesses showed numerous enamel crater-shaped depressions and deep microcleavages penetrating into the enamel thickness. In absence of caries or fractures, the abscesses pathogenesis may be related to microcleavages of the enamel and dentin, which allow bacterial invasion of the pulp. There could be a relationship between XLH disease and enamel abnormalities. SCANNING 36:456–461, 2014. © 2014 Wiley Periodicals, Inc.

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