Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings

BACKGROUND/AIM: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers, an explanation of the very variable phenotype. The aim of this report is to communicate the diagnosis and management of an unusual case of Proteus Syndrome with special attention to oral and craniofacial findings.

CASE REPORT: A 15-year-old patient was referred for surgical treatment of pronounced skull malformations and correction of oral mucosal hyperplasia. Treatment caused significant improvement in facial appearance and oral soft tissue conditions.

CONCLUSION: Surgical measures adapted to the local findings and symptoms can often relieve severe disfigurement of the patient.