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.
Similar content being viewed by others
References
Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW. A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature. Ann Pediatr Endocrinol Metab. 2014;19:36–41.
Sabandal MM, Robotta P, Bürklein S, Schäfer E. Review of the dental implications of X-linked hypophosphataemic rickets (XLHR). Clin Oral Investig. 2015;19:759–68.
Razali NN, Hwu TT, Thilakavathy K. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets. J Pediatr Endocrinol Metab. 2015;28:1009–17.
White KE, Hum JM, Econs MJ. Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis. Curr Osteoporos Rep. 2014;12:252–62.
Pettifor JM, Thandrayen K. Hypophosphatemic rickets: unraveling the role of FGF23. Calcif Tissue Int. 2012;91:297–306.
Penido MG, Alon US. Hypophosphatemic rickets due to perturbations in renal tubular function. Pediatr Nephrol. 2014;29:361–73.
Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. Curr Osteoporos Rep. 2015;13:88–97.
Cremonesi I, Nucci C, D’Alessandro G, Alkhamis N, Marchionni S, Piana G. X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings. Scanning. 2014;36:456–61.
Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce AM, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT. Rare bone diseases and their dental, oral, and craniofacial manifestations. J Dent Res. 2014;93:7S–19S.
Pereira CM, De Andrade CR, Vargas PA, Coletta RD, De Almeida OP, Lopes MA. Dental alterations associated with X-linked hypophosphatemic rickets. J Endod. 2004;30:241–5.
Albright F, Butler A, Bloomberg E. Rickets resistant to vitamin D therapy. Am J Dis Child. 1937;54:529–47.
Chen J, Yang J, Zhao S, Ying H, Li G, Xu C. Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. Gene. 2018;641:355–60.
Gallo LG, Merle SG. Spontaneous dental abscess in vitamin-D resistant rickets: report of case. J Dent Child. 1979;46:327–9.
Yamazaki H, Otake Y, Tomizawa M, Noda T, Suzuki M. A case of hypophosphatemic rickets in which spontaneous dental abscesses were the first evidence. Jpn J Pediatr Dent. 1985;23:204–14.
Douyere D, Joseph C, Gaucher C, Chaussain C, Courson F. Familial hypophosphatemic vitamin D-resistant rickets–prevention of spontaneous dental abscesses on primary teeth: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107:525–30.
Ribeiro TR, Costa FW, Soares EC, Williams JR, Fonteles CS. Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study. Dentomaxillofac Radiol. 2015;44:20140347.
Pavone V, Testa G, Gioitta S, Evola FR, Avondo S, Sessa G. Hypophosphatemic rickets: etiology, clinical features and treatment. Eur J Orthop Surg Traumatol. 2015;25:221–6.
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).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
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.
Informed Consent
The patient’s parents authorized the publication of the clinical photographs.
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12105-017-0872-4