Department of Cranio-Maxillofacial Surgery, Research Unit Rare Diseases with Orofacial Manifestations (RDOM), University Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude W 30, D-48149, Münster, Germany.
Department of Orthodontics, Faculty of Health, School of Dentistry, Witten/Herdecke University, Alfred-Herrhausen-Strasse 44, 58455, Witten, Germany.
Head Face Med. 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7.
Primary failure of eruption (PFE) is a rare disease defined as incomplete tooth eruption despite the presence of a clear eruption pathway. Orthodontic extrusion is not feasible in this case because it results in ankylosis of teeth. To the best of our knowledge, besides the study of Ahmad et al. (Eur J Orthod 28:535-540, 2006), no study has systematically analysed the clinical features of and factors associated with PFE. Therefore, the aim of this study was to systematically evaluate the current literature (from 2006 to 2017) for new insights and developments on the aetiology, diagnosis, genetics, and treatment options of PFE.
Following the PRISMA guidelines, a systematic search was performed using the PubMed/Medline database for studies reporting on PFE. The following terms were used: "primary failure of tooth eruption", "primary failure of eruption", "tooth eruption failure", and "PFE".
Overall, 17 articles reporting clinical data of 314 patients were identified. In all patients, the molars were affected. In 81 reported cases, both the molars and the premolars were affected by PFE. Further, 38 patients' primary teeth were also affected. In 27 patients, no family members were affected. Additional dental anomalies were observed in 39 patients. A total of 51 different variants of the PTH1R gene associated with PFE were recorded.
Infraocclusion of the posterior teeth, especially if both sides are affected, is the hallmark of PFE. If a patient is affected by PFE, all teeth distal to the most mesial tooth are also affected by PFE. Primary teeth can also be impacted; however, this may not necessarily occur. If a patient is suspected of having PFE, a genetic test for mutation in the PTH1R gene should be recommended prior to any orthodontic treatment to avoid ankylosis. Treatment options depend on the patient's age and the clinical situation, and they must be evaluated individually.
原发性萌出失败(PFE)是一种罕见疾病,定义为尽管存在明确的萌出途径,但牙齿仍不完全萌出。在这种情况下,正畸性外展不可行,因为这会导致牙齿的粘连。据我们所知,除了 Ahmad 等人的研究(Eur J Orthod 28:535-540, 2006)之外,没有研究系统地分析 PFE 的临床特征和相关因素。因此,本研究旨在系统评估 2006 年至 2017 年期间关于 PFE 的病因、诊断、遗传学和治疗选择的现有文献,以获得新的见解和进展。
根据 PRISMA 指南,使用 PubMed/Medline 数据库对报告 PFE 的研究进行了系统搜索。使用了以下术语:“原发性牙齿萌出失败”、“原发性萌出失败”、“牙齿萌出失败”和“PFE”。
共确定了 17 篇报告 314 例患者临床数据的文章。所有患者的磨牙均受到影响。在 81 例报告的病例中,磨牙和前磨牙均受到 PFE 的影响。此外,38 例患者的乳牙也受到影响。在 27 例患者中,没有家庭成员受到影响。在 39 例患者中观察到其他牙齿异常。共记录了与 PFE 相关的 PTH1R 基因的 51 种不同变体。
后牙的内陷,特别是如果两侧都受到影响,是 PFE 的特征。如果患者患有 PFE,则最靠近最内侧牙齿的所有牙齿也会受到 PFE 的影响。乳牙也可能受到影响,但不一定会发生。如果怀疑患者患有 PFE,在进行任何正畸治疗之前,应建议进行 PTH1R 基因突变的基因检测,以避免粘连。治疗选择取决于患者的年龄和临床情况,必须单独评估。