Primary failure of eruption (PFE): a systematic review

Abstract

BackgroundPrimary 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.MethodsFollowing 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”.ResultsOverall, 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.ConclusionsInfraocclusion 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.

Combined orthodontic and surgical treatment in PTH1R‐negative ‘primary failure of eruption’‐like anomalies: report of two cases with satisfactory long‐term response to traction

“…). He did not have any systemic disease that could account for tooth eruption failure. There was no clinical or radiological argument in favour of MFE or ankylosis.…”

“…Heterozygous mutations in PTH1R (chromosome 3p21‐p22.1, MIM #168468), resulting in a haploinsufficiency of PTH1R, with an autosomal dominant inheritance, variable phenotypic expression but almost complete penetrance have been reported in PFE but not all patients are positive for mutation screening. Three mutations had been initially identified (c.463G>T, c.543 + 1G>A and c.1050‐3C>G) but more than 40 mutations are now reported.…”

“…The prevalence of PFE in the general population has not been assessed but a recent systematic review listed 314 patients diagnosed with PFE reported in the literature. The disease seems to equally affect both males and females, even though female predominance has been reported in a case series. PFE is known to affect exclusively the premolars and molars of both deciduous and permanent dentitions.…”

“…PFE is known to affect exclusively the premolars and molars of both deciduous and permanent dentitions. Hypodontia and alterations in root morphology have been associated with PFE. Clinical criteria have been proposed in order to screen for potential cases with PTH1R mutations among all patients with clinical PFE (Table ).…”

“…Treatment options in PFE are limited: (1) surgical options include extensive dental extractions and implant placement, segmental osteotomies and distraction, (2) composite build‐ups can preserve alveolar bone level in younger patients and (3) prosthetic build‐ups can minimise the lateral infracclusion. Orthodontic treatment in PFE is considered ineffective by most authors because of the high risk of ankylosis, mostly in patients with PTH1R mutations, and also in patients with negative mutation screening.…”