Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany
In Vivo. 2021 May-Jun;35(3):1583-1594. doi: 10.21873/invivo.12415.
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.
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.
Surgical measures adapted to the local findings and symptoms can often relieve severe disfigurement of the patient.
背景/目的：Proteus 综合征是一种散发性疾病，由于身体各部位不成比例的生长而尤为明显。该病是一种遗传性嵌合体疾病。突变可以来自任何一个胚层，这解释了非常多变的表型。本报告的目的是报告一例罕见的 Proteus 综合征的诊断和治疗，特别关注口腔和颅面的发现。
一名 15 岁患者因明显的颅骨畸形和口腔黏膜增生的矫正而被转诊接受手术治疗。治疗显著改善了面部外观和口腔软组织状况。
针对局部发现和症状的手术措施通常可以缓解患者严重的畸形。
