Think of a Gorlin-Goltz syndrome in front of these signs: Report of a case | ||||
| Egyptian Journal of Oral and Maxillofacial Surgery | ||||
| Volume 13, Issue 3, July 2022, Page 117-121 PDF (1.88 MB) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/OMX.2022.174538.1174 | ||||
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| Authors | ||||
| A. Titou* 1; F. Choumi2; M. Moumine2 | ||||
| 1Department of Head and neck Surgery, Hassan II University Hospital of Fez, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Fez, | ||||
| 2Department of Maxillofacial Surgery and Stomatology, Moulay Ismail Military Hospital, Sidi Mohamed Ben Abdellah University Faculty of Medicine and Pharmacy, Meknes, Morocco | ||||
| 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. These clinical manifestations are age-dependent. In order to facilitate the diagnosis given the complexity of the clinical signs found in this syndrome, specific criteria have been established. The diagnosis of nevoid basal cell carcinoma syndrome requires the presence of 2 major criteria or one major and 2 minor criteria. Conclusion: Gorlin and Goltz syndrome is a rare condition, multisystemic. It is classically defined by the triad composed of basal cell nevi, maxillary keratocysts and skeletal malformations. Therapeutic management remains simply symptomatic. The oncological potential of this syndrome makes it serious, requiring early detection and regular and prolonged monitoring of patients and their descendants. | ||||
| Keywords | ||||
| Nevoid basal cell carcinoma syndrome; Odontogenic keratocyst; The PTCH gene | ||||
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