Dental Manifestations

XLH patients can be affected by tooth abscesses in both deciduous and permanent dentition. The disease results in a diminished barrier to the exterior of the tooth, with cracks in the thin enamel, extended pulp horns, and abnormal formation of the dentine, allowing bacteria and infections to enter the tooth pulp chamber without any visible damage to the tooth.4,11

In an international online survey of parents/caregivers of 90 children with XLH aged 0 to 18 years, it was found that 51% of children had dental abscesses.1

Spontaneous abscesses appear as a result of bacterial invasion into the expanded pulp chamber via the thin and fissured enamel and abnormally mineralised and malformed dentine.4,11
1. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphataemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 2. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 3. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. Accessed October 20, 2017. 4. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. 5. Veilleux LN, Cheung M, Ben Amor M, Rauch F. Abnormalities in muscle density and muscle function in hypophosphatemic rickets. J Clin Endocrinol Metab. 2012;97(8):E1492-E1498. 6. Martin A, Quarles LD. Evidence for FGF23 involvement in a bone-kidney axis regulating bone mineralization and systemic phosphate and vitamin D homeostasis. Adv Exp Med Biol. 2012;728:65-83. 7. Che H, Roux C, Etcheto A, et al. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174(3):325-333. 8. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 9. Econs MJ, Samsa GP, Monger M, Drezner MK, Feussner JR. X-linked hypophosphatemic rickets: a disease often unknown to affected patients. Bone Miner. 1994;24(1):17-24. 10. Zivičnjak M, Schnabel D, Billing H, et al. Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2011;26(2):223-231. 11. Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am. 1997;44(2):443-466. 12. Opsahl Vital S, Gaucher C, Bardet C, et al. Tooth dentine defects reflect genetic disorders affecting bone mineralization. Bone. 2012;50(4):989-997. 13. Picture of the teeth: human anatomy. WebMD. Updated 2015. Accessed December 9, 2017.
With thanks to Kyowa Kirin International for prodiving graphics and citations

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