Craniofacial hyperostoses in Proteus syndrome -- a case report.
OBJECTIVE
Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones.


METHODS
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.


CONCLUSIONS
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.
Adolphs
Nicolai
N
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
Tinschert
Sigrid
S
Bier
Jürgen
J
Klein
Martin
M
D000293:Adolescent; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D015576:Hyperostosis / Q000473:pathology*; D017495:Hyperpigmentation / Q000473:pathology; D008068:Lipomatosis / Q000473:pathology; D016715:Proteus Syndrome / Q000473:pathology*