Nicolai Adolphs1, Sigrid Tinschert, Jürgen Bier, Martin Klein. 1. Department for Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University of Charité, Campus Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität, Berlin, Germany. n_adolphs@hotmail.com
Abstract
OBJECTIVE: Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones. CASE REPORT: In a 17-year-old female patient with severe hyperostoses of the craniofacial bones asymmetric overgrowth of the right upper and left lower limbs, linear hyperpigmentation of the right arm and a history of regional lipomatosis were found. These manifestations were suggestive of Proteus syndrome. The management of the craniofacial involvement is described and a literature overview presented. CONCLUSION: Proteus syndrome is a rare overgrowth syndrome probably related to a somatic mutation that involves craniofacial structures in about 30% of patients. Early diagnosis is required for adequate interdisciplinary treatment.
OBJECTIVE: Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones. CASE REPORT: In a 17-year-old female patient with severe hyperostoses of the craniofacial bones asymmetric overgrowth of the right upper and left lower limbs, linear hyperpigmentation of the right arm and a history of regional lipomatosis were found. These manifestations were suggestive of Proteus syndrome. The management of the craniofacial involvement is described and a literature overview presented. CONCLUSION:Proteus syndrome is a rare overgrowth syndrome probably related to a somatic mutation that involves craniofacial structures in about 30% of patients. Early diagnosis is required for adequate interdisciplinary treatment.