Review and case report of the treatment in a young girl with primary failure of eruption

Awad, Mirna G.; Dalbah, Lana; Srirengalakshmi, M; Venugopal, Adith; Vaid, Nikhilesh R.

doi:10.1002/ccr3.5632

Cited by 6 publications

(10 citation statements)

References 37 publications

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“…Regarding the type of malocclusion associated with PFE, no consensus exists in the literature. Hanisch [1,24]. Our patient had a Class II malocclusion.…”

Section: Discussionmentioning

confidence: 67%

“…Tooth eruption is a unique, genetically determined process [1]. Variations and abnormalities in tooth eruption may occur both in syndromic and non-syndromic patients and may cause serious orthodontic disorders.…”

Section: Introductionmentioning

confidence: 99%

“…More recently, reported mutations in the lysine methyltransferase 2C (KMT2C) gene have been suggested as another potential molecular etiology of familial non-syndromic PFE [13]. However, not all patients with PFE carry mutations in known genes [1,14].…”

Section: Introductionmentioning

confidence: 99%

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Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars

Vinereanu,

Munteanu,

Clauss

et al. 2024

Children

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Primary failure of eruption (PFE) is a rare non-syndromic condition involving total or partial non-eruption of posterior teeth in the absence of mechanical obstruction. This paper presents the case of a healthy girl referred at age 4 for asymmetry of the upper arch. Clinical examination confirmed a slight shift of the upper midline to the left, with no erupted teeth distal to the upper left canine and a left posterior open bite. Panoramic X-rays showed delayed intraosseous development of the lateral left upper teeth compared to the right side. Clinic and radiographic follow-up during the next 9 years showed that 26 had not erupted by almost 13 years of age, 27 had delayed development and an unusual shape, and there was an agenesis in 24 and 25. Genetic analysis using the PTH1R single-gene sequencing method did not detect any known disease-causing or rare pathogenic variants that could explain the patient’s phenotype. Even when detected early, PFE raises difficult problems with regard to diagnosis and ortho-surgical treatment planning due to the impossibility of accurately predicting its evolution. Tooth agenesis on the same arch worsens the prognosis and adds challenges to planning the treatment. Close long-term follow-up and timely adjustment of the treatment plan in accordance with the evolution of the case are needed.

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“…Regarding the type of malocclusion associated with PFE, no consensus exists in the literature. Hanisch [1,24]. Our patient had a Class II malocclusion.…”

Section: Discussionmentioning

confidence: 67%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars

Vinereanu,

Munteanu,

Clauss

et al. 2024

Children

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“…It is also obvious that cases presenting exclusively unilateral signs support the fact that the gene PTH1R can not explain everything. Moreover, the absence of mutation of the PTH1R can not rule out a real PFE 9 . However, normal activation of PTH1R is known to require sufficient interaction of the ligand (parathyroid hormone or parathyroid hormone-related protein) and PTH1R , as well as dimerization of PTH1R .…”

Section: Discussion and Proposal Of Management Guidelinesmentioning

confidence: 99%

Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment

Thuaire,

Delebarre,

Marsili

et al. 2024

Journal of Craniofacial Surgery

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Objective: Primary failure of eruption is characterized by a nonsyndromic defect in tooth eruption in the absence of mechanical obstruction. It is correlated to rare heterozygous variants in the parathyroid hormone receptor 1 gene. The management of primary failure of eruption is complex because many therapies are ineffective. The present study aimed to compare the clinical outcomes of our patients with the findings reported in the literature, and to propose a treatment guideline based on the literature and our experience. Methods: Retrospective study of patients affected by primary dental eruption failure in the department and analyse of the results and compare with those of the litterature. Results: Twelve patients belonging to 5 families (9 males, 3 females; 13–52 y old) diagnosed and treated in the maxillofacial surgery and stomatology department of the Lille University Hospital were included. All patients showed posterior tooth involvement, and most patients showed bilateral defects. None of the affected teeth had coronal alveolar bone, whereas 6 patients showed root resorption in the affected teeth. Genetic analyses, performed on 11 patients, identified a parathyroid hormone receptor 1 disease-causing variant in 7 of them (63%). Multidisciplinary treatment was required to rehabilitate these patients. Orthodontic interventions, even at an early age, are difficult in affected teeth, which are often blocked or have internal resorption. Moreover, retention of these affected teeth during growth leads to dentoskeletal malocclusions, requiring difficult surgical management in the long term. Therefore, early extraction of these teeth is frequently recommended once the diagnosis has been confirmed. An implant-borne prosthetic rehabilitation can then be achieved at the end of growth after correction of the jaw discrepancy. In case of a late diagnosis, other surgical or noninvasive techniques may be used depending on the clinical situation. Distraction osteogenesis or segmental osteotomy could be discussed for patients with mild phenotypes. Conclusions: Early diagnosis of primary eruption defects is crucial to offer appropriate management as early as possible, and so to avoid late complicated treatments.

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“…The treatment approach to PFE conditions may include a wide spectrum of choices. Whenever such a diagnosis is made, careful consideration should be taken whether it should be treated or the clinician should rather observe the infraocclusion [ 31 ]. If the treatment is manageable at an age that the growth has already been completed, a prosthesis could be a suitable therapeutic option.…”

Section: Treatment Approach Of Primary Failure Of Eruptionmentioning

confidence: 99%

Teeth Eruption Disorders: A Critical Review

Roulias

Kalantzis²,

Doukaki³

et al. 2022

Children

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Dental eruption refers to the vertical displacement of a tooth from its initial non-functional towards its functional position. Tooth eruption disorders may be expressed in various clinical conditions, which may be grouped as “primary retention” and “secondary retention”. The purpose of this article is to review the literature and the clinical parameters of the various conditions related to tooth eruption disorders. Materials and Methods: The search strategy of this critical review included keywords in combination with MeSH terms in Medline, Scopus, and Cochrane Library until February 2022 and only in English. Results: “Primary Failure of Eruption” (PFE) occurs during the eruption process and includes clinical characteristics of both primary and secondary retention, which make diagnosis difficult. PFE is distinguished by Types I and II. In Type I, the defect in the eruption process occurs in all the relative teeth at the same time, whilst in Type II, the clinical expressions vary in multiple quadrants of the mouth, and the second molars erupt more. The variability of the PFE’s clinical spectrum seems to be connected to a genetic origin. The differential diagnosis among single ankylosis, secondary retention, and PFE is based on the occlusal relationship between the upper and the lower teeth distally, most commonly the first molar, which has not yet fully erupted. The treatment approach depends on many factors and combines surgical and orthodontic techniques.

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Review and case report of the treatment in a young girl with primary failure of eruption

Cited by 6 publications

References 37 publications

Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars

Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars

Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment

Teeth Eruption Disorders: A Critical Review

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