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

Antoine Thuaire; Hélène Delebarre; Luisa Marsili; Cindy Colson; Clemence Vanlerberghe; Ludovic Lauwers; Gwenael Raoul; Sandrine Touzet-Roumazeille; Joël Ferri

doi:10.1097/SCS.0000000000009963

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

J Craniofac Surg. 2024 Feb 1. doi: 10.1097/SCS.0000000000009963. Online ahead of print.

Authors

Antoine Thuaire¹, Hélène Delebarre¹, Luisa Marsili^{2

3}, Cindy Colson⁴, Clemence Vanlerberghe¹, Ludovic Lauwers¹, Gwenael Raoul⁵, Sandrine Touzet-Roumazeille¹, Joël Ferri⁵

Affiliations

¹ Department of Oral and Maxillo-Facial Surgery, Service de Stomatologie et de Chirurgie Maxillo-Faciale CHRU de Lille.
² Department of Clinical Genetics, Université de Lille, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
³ Department of Clinical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
⁴ Department of Clinical Genetics, Service de Génétique Médicale CHRU de Lille.
⁵ Department of Clinical Genetics, Service de Stomatologie et de Chirurgie Maxillo-Faciale CHRU de Lille, Lille, France.

PMID: 38299863
DOI: 10.1097/SCS.0000000000009963

Abstract

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.