Oral manifestations of proteus syndrome: case report

IF 2 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2025-03-14 DOI:10.1016/j.oooo.2025.01.040

Alice Souza Villar Cassimiro Fonseca, Luciana Munhoz, Plauto Christopher Aranha Watanabe, Emiko Saito Arita, Núbia Rafaelle Oliveira de Meneses, Lucila Massu Yoshizaki Akinaga Moreira, Claudio Costa

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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.

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变形杆菌综合征的口腔表现1例

Proteus综合征是一种罕见的先天性非遗传性疾病，由AKT1基因突变引起，具有高度可变的表型。这种疾病的特点是多种组织（尤其是骨）的恶化、不均匀和进行性生长，导致口腔和颌面区域的改变和不对称。32岁白人男子，因咀嚼时疼痛，牙龈全身性发炎，前来就诊。口腔外和口腔内临床检查显示明显的面部不对称，张嘴受限，单侧大舌。全景x线片显示双颌不对称，马赛克模式骨受累，中线移位，牙齿出牙和成熟的变化，咬合x线片显示外植骨或多发性骨瘤。颞下颌关节平面摄影显示左侧下颌结构不成比例的增加。根据临床和影像学表现，诊断为变形杆菌综合征，并定期随访。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oral Surgery Oral Medicine Oral Pathology Oral Radiology DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.80

自引率

6.90%

发文量

1217

审稿时长

2-4 weeks

期刊介绍： Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology is required reading for anyone in the fields of oral surgery, oral medicine, oral pathology, oral radiology or advanced general practice dentistry. It is the only major dental journal that provides a practical and complete overview of the medical and surgical techniques of dental practice in four areas. Topics covered include such current issues as dental implants, treatment of HIV-infected patients, and evaluation and treatment of TMJ disorders. The official publication for nine societies, the Journal is recommended for initial purchase in the Brandon Hill study, Selected List of Books and Journals for the Small Medical Library.