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Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia

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Abstract

Hypophosphatemic rickets is a rare genetic disorder involving the regulation of fibroblast growth factor 23 (FGF23), a phosphaturic agent, clinically showing bowing of the legs, short stature and dentoalveolar abscesses. A 7-year-old boy, with previous hypochondroplasia diagnosis, was referred to our pediatric dentistry clinic presenting short stature, bone deformities and sinus tracts at deciduous teeth apex levels not related with trauma, restorations or dental caries. After deciduous teeth extraction, due to root resorption and mobility, light microscopy exhibited typical hypophosphatemic dentin, and micro-computed tomography revealed tubular clefts and porosities throughout the teeth. Laboratory tests confirmed the HR diagnosis, after which the treatment was initiated.

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Acknowledgements

The authors are grateful to the Laboratory of Microscopy and Histopathology of the Department of Stomatology, Public Oral Health, and Forensic Dentistry and to the Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, for the valuable contribution in the diagnostic procedures.

Funding

This study was supported by the following Grants: FAPESP 2016/11419-0 and 2011/52090-8 (Jorge Esquiche León).

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Authors and Affiliations

  1. Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of Sao Paulo, São Paulo, SP, Brazil

    Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato & Kranya Victoria Díaz Serrano

  2. Diagnóstico Bucal do Centro Universitário da Grande Dourados (UNIGRAN-MS), Dourados, Brazil

    Leila Daher Moreira & Alcides Moreira

  3. Department of Dentistry, Endodontics and Dental Materials, School of Dentistry of Bauru, University of São Paulo, São Paulo, SP, Brazil

    Clarissa Teles Rodrigues

  4. Hematology Division, Department of Clinical Medicine, Ribeirão Preto Medical School (FMRP/USP), University of São Paulo, São Paulo, SP, Brazil

    Luciana Yamamoto Almeida

  5. Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, SP, Brazil

    Jorge Esquiche León

Authors
  1. Silvia Elena Yacarini Paredes
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  2. Raquel Assed Bezerra Segato
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  3. Leila Daher Moreira
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  4. Alcides Moreira
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  5. Kranya Victoria Díaz Serrano
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  6. Clarissa Teles Rodrigues
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  7. Luciana Yamamoto Almeida
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  8. Jorge Esquiche León
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Corresponding author

Correspondence to Jorge Esquiche León.

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The authors have no conflict of interest in the present manuscript.

Ethical Approval

According to Brazilian law, case reports do not need ethical approval by a committee.

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The patient’s parents authorized the publication of the clinical photographs.

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Paredes, S.E.Y., Segato, R.A.B., Moreira, L.D. et al. Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. Head and Neck Pathol 12, 604–609 (2018). https://doi.org/10.1007/s12105-017-0872-4

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  • DOI: https://doi.org/10.1007/s12105-017-0872-4

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