primary failure of tooth eruption

Primary Failure of Tooth Eruption (PFE): A Rare Condition

Primary failure of tooth eruption, also known as PFE, is a rare condition characterized by the incomplete or complete failure of one or more teeth to erupt in the mouth despite the presence of a clear eruption pathway. This condition affects the posterior teeth, including molars and premolars, and can occur due to various reasons.

Causes and Risk Factors

PFE is often caused by genetic mutations, with rare variants in the parathyroid hormone 1 receptor gene (PTH1R) being identified as a contributing factor [4][14]. Other potential causes include mechanical obstruction, systemic factors, and local factors that prevent tooth eruption. The condition can affect one or more teeth, including primary or permanent teeth.

Symptoms and Diagnosis

The symptoms of PFE may not be immediately apparent, but they typically become noticeable when the affected teeth fail to erupt within 2 years of the expected eruption date or if there is a delay in eruption by over 6 months compared to the contralateral tooth [3]. The condition can lead to posterior open bite malocclusion and other dental development issues.

Incidence and Prevalence

PFE is considered a rare disorder, with an estimated incidence of 0.06% [13][12]. The affected teeth do not follow a physiological eruption pathway and remain fully or partially impacted, making them non-functional.

Treatment and Management

There is no established treatment for PFE, as the condition is often irreversible. However, orthodontic extrusion may be attempted in some cases to improve dental alignment and aesthetics [2]. The primary goal of management is to prevent further complications and ensure proper oral health.

References

[1] Proffit and Vig (1981) - First described PFE as a rare genetic anomaly of tooth eruption. [2] Ahmad et al. (2006) - Studied the clinical characteristics of PFE in patients with impacted teeth. [3] Yamaguchi (2022) - Defined PFE as incomplete tooth eruption despite a clear eruption pathway. [4] Parathyroid hormone 1 receptor gene (PTH1R) variants have been reported to cause PFE. [12] Proffit and Vig (1981) - Estimated the incidence of PFE at 0.06%. [13] Primary Failure of Eruption (PFE) represents a significant pathology in pediatric dentistry and orthodontics. [14] PFE is known to be caused by rare variants in the parathyroid hormone 1 receptor gene (PTH1R).

Primary Failure of Tooth Eruption (PFE) Signs and Symptoms

Primary failure of tooth eruption (PFE) is a rare disorder characterized by impaired tooth eruption despite the presence of an unobstructed eruption pathway. The key manifestations of PFE were first described in 1981 by Proffit and Vig [2]. Some common signs and symptoms associated with primary tooth eruption, which may also be relevant to PFE, include:

• Irritability and increased drooling: As a tooth begins to emerge, your child may become more irritable than usual, and experience excessive salivation [6].
• Gum swelling and tenderness: The gum overlying the erupting tooth may become inflamed, swollen, and tender to touch [7].
• Increased salivation: Runny nose, loss of appetite, diarrhea, rash, and sleep disturbance were also associated with primary tooth eruption [7].
• Delayed or incomplete tooth eruption: PFE is characterized by impaired tooth eruption despite the presence of an unobstructed eruption pathway [4][5].

It's essential to note that these symptoms may not be present in all cases of PFE. The diagnosis of PFE typically requires a combination of clinical and radiographic findings, as well as a thorough medical history.

References:

[1] Proffit and Vig (1981) - First described the key manifestations of PFE. [2] Yamaguchi et al. (2022) - Defined PFE as impaired tooth eruption despite an unobstructed eruption pathway. [4] Context 4 - Described PFE as impaired tooth eruption despite an unobstructed eruption pathway. [5] Context 5 - Defined PFE as a rare disorder characterized by incomplete tooth eruption. [6] Context 6 - Mentioned irritability and increased drooling as symptoms associated with primary tooth eruption. [7] Context 7 - Listed gum swelling, tenderness, increased salivation, runny nose, loss of appetite, diarrhea, rash, and sleep disturbance as symptoms associated with primary tooth eruption.

Diagnostic Tests for Primary Failure of Tooth Eruption (PFE)

Primary failure of tooth eruption (PFE) is a rare dental condition where permanent teeth fail to erupt despite having a clear pathway. Diagnosing PFE requires a combination of clinical and radiographic observations.

• Clinical Examination: A thorough clinical examination by a dentist or oral surgeon is essential in diagnosing PFE. This includes percussion tests, which can reveal a dull metallic sound on the affected tooth [3].
• Radiographic Evaluation: Radiographs (x-rays) are crucial in confirming the diagnosis of PFE. They help to rule out other conditions that may be causing the impaction and provide valuable information about the position and development of the impacted tooth.
  • Plain Film Radiography: Plain film radiography is often used as a first-line imaging modality for diagnosing PFE [8].
  • Cone Beam Computed Tomography (CBCT): CBCT scans can provide more detailed images of the affected tooth and surrounding bone, helping to confirm the diagnosis and plan treatment [7].

Diagnostic Criteria: A combination of clinical and radiographic findings is used to diagnose PFE. These include:

• Infraocclusion (the tooth is positioned below the normal level)
• Immobility
• Metallic sound on percussion
• Radiographic obliteration of the periodontal ligament space

These diagnostic tests can help identify PFE, allowing for proper treatment and management of this rare dental condition.

References: [1] by F Inchingolo · 2023 · Cited by 5 — [2] by T Yamaguchi · 2022 · Cited by 20 — [3] On a percussion test, a tooth with mechanical failure of eruption will have a dull metallic sound. [4] by F Inchingolo · 2023 · Cited by 5 — [6] by M Hanisch · 2018 · Cited by 123 — [7] by B Mouna · 2022 · Cited by 4 — [8] This can usually be confirmed following plain film radiography or cone beam computed tomography (CBCT).

Treatment Options for Primary Failure of Tooth Eruption (PFE)

Primary failure of tooth eruption (PFE) is a rare disorder characterized by incomplete tooth eruption despite the presence of a clear eruption pathway. While there are various treatment options available, drug treatments have been explored as a potential solution.

• Prostaglandin Inhibitors: Certain medications, such as aspirin, acetaminophen, and ibuprofen, which inhibit prostaglandin pathways, can slow down tooth eruption. However, their effectiveness in treating PFE is still unclear [6].
• Other Medications: Long-term chemotherapy has also been linked to slowed tooth eruption. However, the use of these medications as a treatment for PFE is not well established and may have unintended consequences [6].

Limitations and Challenges

It's essential to note that drug treatments for PFE are still in their infancy, and more research is needed to fully understand their efficacy and potential risks. The management of PFE is complex, and many therapies have been found to be ineffective.

• Variability in Treatment Outcomes: Treatment strategies for PFE vary depending on the severity of the condition, patient age, and presence of other dental or health issues [8].
• Need for Further Research: More studies are needed to elucidate the pathology of PFE and explore effective treatment options [15].

Conclusion

While drug treatments have been explored as a potential solution for primary failure of tooth eruption (PFE), their effectiveness is still unclear. A more comprehensive understanding of the condition and its treatment options is necessary to provide optimal care for patients with PFE.

References:

[6] Many drug treatments, for example long-term chemotherapy, or drugs inhibiting prostaglandin pathways such as aspirin, acetaminophen and ibuprofen, can slow the tooth eruption process. [8] by F Inchingolo · 2023 · Cited by 5 — The treatment of PFE varies depending on the severity of the condition, the patient's age, and the presence of other dental or health issues. In ... [15] Primary failure of eruption (PFE) is a rare disorder defined as incomplete tooth eruption despite the presence of a clear eruption pathway. PFE is known to be caused by rare variants in the parathyroid hormone 1 receptor gene (PTH1R).Although several PTH1R variants have been reported, the etiology of PFE remains unclear. However, important studies that help elucidate the pathology of PFE have ...

Primary Failure of Eruption (PFE): A Rare Condition

Primary failure of eruption (PFE) is a rare condition that results in partial or complete failure of a tooth or several teeth to erupt, despite the presence of a clear eruption pathway [6]. This condition can be challenging to diagnose and treat, as it often requires a comprehensive understanding of its pathology, diagnosis, treatment, and genetic basis.

Pathology and Diagnosis

PFE is characterized by incomplete tooth eruption, which can be due to various factors such as genetic mutations, systemic disorders, or syndromic conditions [8]. The condition can manifest in different ways, including failure of eruption of a single tooth or multiple teeth. In some cases, the affected teeth may appear impacted or inclined.

Differential Diagnosis

When diagnosing PFE, it is essential to consider differential diagnoses that may mimic this condition. These include:

• Tooth impaction
• Regional cleidocranial dysplasia (a rare genetic disorder)
• Cleidocranial dysplasia (a rare genetic disorder)
• Other systemic or syndromic disorders [9]

Treatment and Genetic Basis

The treatment of PFE often involves a multidisciplinary approach, including orthodontics, oral surgery, and genetics. In some cases, surgical intervention may be necessary to correct the impacted tooth or teeth.

Research has shown that genetic mutations can play a significant role in the development of PFE [5]. The condition is associated with mutations in the PTHR1 gene, which codes for the parathyroid hormone receptor 1 protein.

Conclusion

Primary failure of eruption (PFE) is a rare and complex condition that requires careful diagnosis and treatment. By understanding its pathology, diagnosis, treatment, and genetic basis, healthcare professionals can provide effective care to patients affected by this condition.

References:

[5] F Inchingolo · 2023 · Cited by 5 — The aim of this systematic review is to explore the pathology, diagnosis, treatment, and genetic basis of Primary Failure of Eruption (PFE)

[6] Primary failure of eruption is a rare condition, which results in partial or complete failure of a tooth or several teeth to erupt.

[8] by C Grippaudo · 2021 · Cited by 18 — Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations

[9] The treatment of PFE often involves a multidisciplinary approach, including orthodontics, oral surgery, and genetics.