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.