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

Gianfranco Favia ,Angela Tempesta

doi:10.4172/2161-1041.1000159

Abstract

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.

Highlights

Gorlin-Goltz Syndrome, known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a rare autosomal dominant disorder showing a variable penetrance and resulting from mutations of the PTCH1 (9q22.3) gene [1]
As symptoms gradually appear with child growth, NBCCS is very difficult to diagnose in early childhood, and in most cases it is detected in patients aged between 17 and 35 years and only exceptionally in very young patients [3]
Among the 20 enrolled patients affected by Keratocystic Odontogenic Tumor (KCOT) in the context of NBCCS, there were 10 males and 10 females, with an average age of 10,6 years

Summary

Introduction

Gorlin-Goltz Syndrome, known as Nevoid Basal Cell Carcinoma Syndrome (NBCCS), is a rare autosomal dominant disorder showing a variable penetrance and resulting from mutations of the PTCH1 (9q22.3) gene [1]. Its occurrence among family members is an important diagnostic criterion, 20-40% of cases result from de novo PTCH1 gene mutation [2]. A suspected diagnosis of NBCCS should be considered based on the findings of: (1) one major criterion and molecular confirmation; (2) two major criteria or (3) one major and two minor criteria [5].

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Discussion

Conclusion