TY - JOUR ID - 283370 TI - Think of a Gorlin-Goltz syndrome in front of these signs: report of a case JO - Egyptian Journal of Oral and Maxillofacial Surgery JA - OMX LA - en SN - 2090-097X AU - TITOU, ANOUAR AU - CHOUMI, Faiçal OD/HUHI AU - MOUMINE, Mohammed AD - Moulay Ismail militari Hospital of Meknès Morocco, Faculty of Medicine and Pharmacy of Fez Y1 - 2023 PY - 2023 VL - IS - SP - EP - KW - Odontogenic Keratocyst KW - Nevoid basal cell carcinoma syndrome KW - The PTCH gene DO - 10.21608/omx.2022.174538.1174 N2 - 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. UR - https://omx.journals.ekb.eg/article_283370.html L1 - ER -