GORLIN-GOLTZ SYNDROME WITH RARE ASSOCIATED FINDS: A CASE REPORT OF 17-YEAR FOLLOW-UP

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2020-09, Vol.130 (3), p.e169-e170
• Main Authors: SENA, YASMIM RODRIGUES, SANTOS, HUMBERTO JÁCOME, MORAES, ANTONIA TAIANE LOPES DE, BALBINOT, KAROLYNY MARTINS, JÚNIOR, SÉRGIO DE MELO ALVES, JUNIOR, NEWTON GUERREIRO DA SILVA, PINHEIRO, JOÃO DE JESUS VIANA
• Format: Article
• Language: English
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2020.04.285

Gorlin-Goltz syndrome (GGS) is an inherited autosomal dominant disorder caused by mutations in the patched tumor suppressor gene, which has variable phenotypic expressivity. Gorlin and Goltz defined the syndrome by 3 main characteristics: multiple basal cell carcinomas, keratocystic odontogenic tumors, and skeletal abnormalities anomalies. Many neurologic, ophthalmic, endocrine, and genital manifestations are known to be associated with this syndrome. This study reports the case of a 27-year-old woman with GGS who was followed-up for 17 years. She was submitted to imaging tests and biopsies that could diagnose the presence of maxillary keratocystic odontogenic tumors and basal cell carcinomas, which were treated with decompression, marsupialization, and surgical removal; calcification of the cerebral sickle was also found. In addition to these common manifestations, this case revealed the presence of other less common comorbidities that are rarely described: arachnoid cysts, teratoma, fibrothecoma, eyelid cysts, and focal osteolysis on lower member bones, diagnosed with simple bone cyst.