TY - JOUR AU - Matos, Jefferson David Melo de AU - Nakano, Leonardo Jiro Nomura AU - Diamantino, Pedro Jacy Santos AU - Lopes, Guilherme da Rocha Scalzer AU - Bottino, Marco Antonio AU - Vasconcelos, John Eversong Lucena de AU - Ramos, Nathália de Carvalho AU - Andrade, Valdir Cabral PY - 2020/10/22 Y2 - 2024/03/28 TI - Síndrome de Gorlin-Goltz: características sistêmicas e maxilofaciais JF - ARCHIVES OF HEALTH INVESTIGATION JA - Arch Health Invest VL - 10 IS - 1 SE - DO - 10.21270/archi.v10i1.4853 UR - https://archhealthinvestigation.com.br/ArcHI/article/view/4853 SP - 49-54 AB - <p>Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic disorder characterized by the presence of multiple keratocysts in the jaw and basal cell carcinomas, at young age, of palmar and/or plantar depressions, of calcification of the sickle cerebral and skeletal malformations. This syndrome is caused by a mutation of the PTCH1 (patched homolog 1 from Drosophila) gene, a tumor suppressor gene. In this work, the systemic and maxillofacial characteristics of the Gorlin-Goltz syndrome, as well as some neurological, dermatological, musculoskeletal and endocrine alterations, are reviewed. In addition, a case report was added for the purpose of support this study.</p> ER -