J Oral Med Oral Surg
Volume 25, Number 4, 2019
|Number of page(s)||4|
|Section||Article pédagogique / Educational article|
|Published online||17 September 2019|
Oral and skin manifestations of tuberous sclerosis complex
Aix Marseille Univ, APHM, La Timone, Service d'Odontologie, 264 rue Saint Pierre, 13385 Marseille Cedex 5, France
2 UMR 7268 ADES, Aix-Marseille/EFS/CNRS, faculté de médecine-secteur nord, Boulevard Pierre-Dramard, 13344 Marseille Cedex 15, France
3 Centre Massilien de la Face, 24 avenue du Prado, 13006 Marseille, France
4 UMR_S910. Centre de génétique médicale de Marseille, Aix Marseille Univ, Campus Timone, 27 Bd J Moulin, 13385 Marseille Cedex 5, France
* Correspondence: Jacinthe.LAFONT@ap-hm.fr
Accepted: 29 May 2019
Tuberous sclerosis complex is a genetic disease characterized by multisystemic hamartomas with variable and non-specific clinical manifestations. The disease is associated with mutations of genes encoding the proteins hamartin and tuberin. The hamartin/tuberin complex plays an anti-tumor function by inhibiting mammalian target of rapamycin. The diagnostic criteria for the disease were reviewed at a consensus conference in 2012. Evidence of mutations of tuberous sclerosis complex 1 or 2 genes has become a clinical and independent diagnostic criterion. Among the clinical criteria used, two oral criteria include the presence of three or more enamel pits and the presence of two or more oral fibromas. Several dermatological criteria are included within these criteria and are of interest in our specialty when these are localized at the cephalic extremity.
Key words: tuberous sclerosis / oral manifestations / skin manifestations
© The authors, 2019
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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