J Oral Med Oral Surg
Volume 24, Number 3, October 2018
|Page(s)||138 - 142|
|Section||Cas clinique et revue de la littérature / Up-to date review and case report|
|Published online||10 October 2018|
Up-to Date Review And Case Report
Dental implant placement in a patient with cystinosis. A case report
Pôle Odontologie, Hôpital Maison Blanche, CHU de Reims,
2 Laboratoire d'anatomo-pathologie, Hôpital Robert Debré, CHU de Reims, Reims, France
* Correspondence: firstname.lastname@example.org
Accepted: 21 January 2018
Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of intracellular cystine cristals, that causes tissular and multi-organic lesions (kidney, eyes, endocrine glands). Observation: We report a rare case of a patient affected by infantile nephropathic cystinosis, who consulted for an implant placement in a single-tooth gap. Discussion: Accumulation of cystine leads to tissue damage, primarily in the kidney, the liver and the cornea, but other organs, such as the mouth, teeth and jaws may be also involved. The article aimed to present oral manifestations associated with this storage disease and to discuss how oral surgeon can evaluate and manage these patients despite the lack of a standardized protocol.
Key words: cystinosis / genetic disease / oral manifestations / oral surgery
© The authors, 2018
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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