ODONTOGENIC KERATOCYSTS ASSOCIATED WITH GORLIN GOLTZ-SYNDROME: A CASE REPORT

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2024-06, Vol.137 (6), p.e267-e267
• Main Authors: DAMAS, Ingrid Iara, SCARINI, João Figueira, DE LIMA SOUZA, Reydson Alcides, LAVAREZE, Luccas, EGAL, Érika Said Abu, ALTEMANI, Albina, MARIANO, Fernanda Viviane
• Format: Article
• Language: English
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2023.12.574

A 19-year-old female patient presented at our clinic service with ocular proptosis, hypertelorism, palmoplantar pitting, melanocytic nevi on her face, a tongue with dark spots, and multiple skin lesions consistent with basal cell carcinoma. The patient reported social difficulties, intellectual deficit, and a history of numerous odontogenic cysts and ovarian fibromas/cysts in the past six years. A panoramic radiograph revealed multiple well-defined, unilocular radiolucent images in both the maxilla and mandible. The patient underwent several biopsies, which revealed fragments of a cystic capsule with a corrugated epithelium, presenting a uniform thickness and showing proliferation in some areas, consistent with odontogenic keratocyst. Based on the clinical, radiological, and histopathological findings, the diagnosis of Gorlin Goltz-syndrome was established, and the patient was referred to clinical genetics, where a PTCH1 gene mutation was confirmed. Currently, the patient is undergoing genetic counseling and follow-up.