Think of a Gorlin-Goltz syndrome in front of these signs: report of a case

Document Type : Case Report

Authors

Moulay Ismail militari Hospital of Meknès Morocco, Faculty of Medicine and Pharmacy of Fez

Abstract

INTRODUCTION

Gorlin and Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare hereditary affection, with autosomal dominant inheritance. Linked to a mutation in the tumor suppressor gene PTCH. It is characterized by a spectrum of developmental abnormalities and a predisposition to various cancers. Our role is essential in the diagnosis of this syndrome through the maxillofacial signs specific to its expression.



OBSERVATION

We report the case of a 14-year-old patient, in whom all the clinical and radiological signs noted during her hospitalization in our maxillofacial surgery department at the Moulay Ismail military hospital in Meknes, supported the diagnosis of Gorlin-Goltz syndrome. The presumptive diagnosis of the maxillary swellings presented by the patient indicated keratocysts. Our patient underwent curettage and enucleation of the maxillary and mandibular cysts, and the diagnosis of keratocysts was confirmed histologically.



DISCUSSION

Gorlin and Goltz syndrome is an autosomal dominant genetic disorder. Inheritance is autosomal dominant. The Patched gene (PTCH) located on chromosome 9 at 9q22.3-q31, is the gene responsible for this syndrome. Clinically, this condition is characterized by a spectrum of developmental abnormalities and a predisposition to different cancers.



CONCLUSION

Gorlin and Goltz syndrome is a rare condition, defined by the triad composed of basal cell nevi, maxillary keratocysts and skeletal malformations. The oncological potential of this syndrome makes it serious, requiring early detection and regular and prolonged monitoring of patients and their descendants.

Keywords



Articles in Press, Accepted Manuscript
Available Online from 31 January 2023
  • Receive Date: 13 November 2022
  • Revise Date: 19 June 2024
  • Accept Date: 22 November 2022