Génétique héréditaire : recherche actuelle

Abstrait

Gorlin-Goltz Syndrome: Conservative Treatment of Keratocystic Odontogenic Tumors, Frequent First Clinical Manifestation in Pediatric Age

Favia G, Tempesta A, Limongelli L, Loprieno S, Cazzolla AP, Lacaita M, Laforgia N, Maiorano E

Objective: Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic condition resulting from mutations of the PTCH1 (9q22.3) gene. It involves multiple organs, such as the skin, skeleton and jaws. Aim of this study was to describe Keratocystic Odontogenic Tumors as frequent first clinical manifestation of NBCCS during pediatric age, and theirs conservative treatment, that is really important, especially among young patients.
Methods: We report on 20 pediatric patients affected by Gorlin-Goltz Syndrome, presenting totally 60 Keratocystic Odontogenic Tumors. Patients underwent conservative lesion enucleation with maximal permanent teeth preservation. The ostectomy and osteoplasty were made with both conventional rotative instruments and piezoelectric tools, in order to remove damaged bone, epithelial remnants and satellite cysts, and to possibly minimize the recurrence risk. All surgical samples were subjected to histopathological examination and the patients were followed-up for a minimum of 18 months.
Results: Overall, 60 Keratocystic Odontogenic Tumors were removed (8 patients with single and the remaining with multiple cysts) with healing of all the surgical wounds without complications. Nevertheless, recurrence of 5 lesions (8.3%) from 3 patients occurred: all of them were >5 cm in maximum diameter and associated with permanent teeth.
Conclusion: Keratocystic Odontogenic Tumors in pediatric patients require conservative approaches for permanent teeth preservation. While conventional enucleation leads up to 60% recurrence rates, cavity ostectomy with piezoelectric tools significantly reduced the recurrence risk and allowed preservation of permanent teeth.