Oral manifestations of proteus syndrome: case report

Abstract

Proteus Syndrome is a rare, congenital, and nonhereditary disorder, caused by a mutation in the AKT1 gene and with a highly variable phenotype. This condition is characterized by exacerbated, heterogeneous, and progressive growth of multiple tissues, notably bone, causing alterations and asymmetries in the oral and maxillofacial region. Caucasian 32-year-old man came to the dental service complaining of painful symptoms when chewing and generalized gingival inflammation. The extraoral and intraoral clinical examination revealed significant facial asymmetry, limited mouth opening, and unilateral macroglossia. The panoramic radiograph showed bimaxillary asymmetry, bone involvement in a mosaic pattern, midline displacement, and changes in tooth eruption and maturation, and the occlusal radiograph showed images suggesting exostoses or multiple osteomas. A planigraphy of the temporomandibular joint showed a disproportionate increase in the mandibular structures on the left. According to the clinical and imaging findings, the diagnosis of Proteus Syndrome was reached, and periodic follow-up was indicated.