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Dental

In hypophosphatasia (HPP), premature tooth loss is a common presenting symptom.1-7

 
Image courtesy of Research Center, Shriners Hospitals for Children—St. Louis
Left: Incisor with root intact from patient with hypophosphatasia. Right: Incisor with root absorbed.

In hypophosphatasia, defective acellular root cementum results in compromised peridontal attachment.1,8,9 Patients may experience2-9:

 
Premature tooth loss—with the root intact—before the age of five
Nontraumatic tooth loss at any age
 
 
Dentists play a critical role in identifying hypophosphatasia.
 

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References:
  1. Foster BL, Ramnitz MS, Gafni RI, et al. Rare bone diseases and their dental, oral, and craniofacial manifestations. J Dent Res. 2014 Jul;93(suppl 7):7S-19S.
  2. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  3. Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190-200.
  4. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol. 2008;22(1):113-127.
  5. Mornet E, Nunes ME. Hypophosphatasia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK1150/. Published November 20, 2007. Updated February 4, 2016. Accessed October 26, 2017.
  6. Reibel A, Maniére M-C, Clauss F, et al. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 2009;4:6.
  7. Whyte MP, Murphy WA, Fallon MD. Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med. 1982;72(4):631-641.
  8. Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229-239.
  9. van den Bos T, Handoko G, Niehof A, et al. Cementum and dentin in hypophosphatasia. J Dent Res. 2005;84(11):1021-1025.