Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

BACKGROUND: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines. METHOD: The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. PURPOSE: The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.

Dental treatment approaches of amelogenesis imperfecta in children and young adults: A systematic review of the literature.

OBJECTIVE: The aim of this review was to compare various types of restorations used in children and young adults affected with amelogenesis imperfecta (AI) to determine the most effective restorative treatment. METHODS: This systematic review included randomized controlled trials, retrospective and prospective cohorts conducted on children and young adults diagnosed with amelogenesis imperfecta and written in French or English. A systematic search was conducted using four databases, namely Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE via PubMed, Science Direct and Scopus, using a selection of MeSH terms: "Amelogenesis Imperfecta," "Therapeutics," "Treatment Outcome," "Adult, young," "Child," "Dental Restoration, Permanent," "Dental Restoration, Temporary," and "Esthetics, Dental." RESULTS: Out of 138 articles identified in the initial search, four articles met all the inclusion criteria. The results showed that ceramic restorations had better quality scores and longevity compared to other restorations. CONCLUSION: Ceramic restorations could be considered the restorative treatment modality of choice for AI-affected children and young adults. However, more high-quality clinical trials involving young patients affected with AI are required to evaluate and compare the outcomes of different restorative approaches. CLINICAL SIGNIFICANCE: Young patients affected with amelogenesis imperfecta usually suffer from low self-esteem, psychological problems and social avoidance, caused by the alteration of teeth such as discoloration, sensitivity, fractures and reduced size. For the dentist, selecting the appropriate restorative treatment for AI in young patients could be a veritable challenge. Therefore, it is important to have an evidence-based modality. For this reason, in this review, the different restorative approaches used in AI-affected young patients were compared to recommend the most effective treatment.

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

BACKGROUND: KohlschüttereTönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which typically manifests as a triad of symptoms:  amelogenesis imperfecta, infantile onset epilepsy, and intellectual disability. 47 cases were reported in English language literature since 1974-2021. CASE REPORT: A 7-year-old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child's parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS. CONCLUSION: It seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter-Tönz Syndrome helping to an early diagnosis and more research about this condition.

How to optimize bonding procedures on healthy and hypomineralized enamel in orthodontics? / Comment optimiser les procédures de collage sur l'émail sain et hypominéralisé en orthodontie ?

Introduction: Bonding to enamel is a daily problem for the orthodontist. While bonding to healthy enamel is nowadays well mastered, bonding to hypomineralized enamel is much less so. The aim of this article was to help the orthodontist to optimise bonding, whatever the clinical situation. Material and Method: Based on data from the literature, the clinical and microscopic characteristics of healthy and hypomineralised enamel, including amelogenesis imperfecta (AI), molar incisor hypomineralization (MIH), fluorosis or erosion will be described. Proposals for optimising bonding will then be identified and summarized. Results: Bonding to enamel is reliable, but the use of an etch-and-rinse mode (even with a universal adhesive) is recommended. For AI, MIH and fluorosis, the use of sodium hypochlorite after etching seems to significantly increase bonding. No treatment is needed for eroded enamel. However, deep resin infiltration for severe MIH or superficial resin infiltration for fluorosis would reduce the risk of enamel fracture during bracket removal. Conclusion: It is important to be aware of the characteristics of the dental substrate and the materials used to optimize procedures.

Introduction: L'adhésion à l'émail est une problématique quotidienne de l'orthodontiste. Si le collage à l'émail sain est aujourd'hui maîtrisé, celui sur l'émail hypominéralisé l'est beaucoup moins. L'objectif de cet article était d'aider l'orthodontiste à optimiser son collage, quelle que soit la situation clinique. Matériel et méthode: À partir des données issues de la littérature, les caractéristiques clinique et microscopique de l'émail sain et de l'émail hypominéralisé en cas d'amélogenèse imparfaite (AI), d'hypominéralisation de molaire incisive (MIH), de fluorose ou d'érosion seront décrites. Puis, les propositions d'optimisation du collage seront recensées et synthétisées. Résultats: Le collage à l'émail est fiable, mais l'utilisation d'un mode mordançage-rinçage (même avec un adhésif universel) est conseillée. Pour l'AI, la MIH et la fluorose, l'utilisation d'hypochlorite de sodium après mordançage semble significativement augmenter l'adhérence. Aucun traitement n'est nécessaire pour l'émail érodé. Cela dit, une infiltration de résine en profondeur pour les MIH sévères ou superficielles pour la fluorose permettrait de réduire le risque de fracture d'émail à la dépose de l'attache. Conclusion: Il convient de connaître les caractéristiques du substrat sur lequel on colle et celles des matériaux utilisés pour optimiser ses procédures.

Misdiagnosed metabolic bone abnormality: a case report.

BACKGROUND: Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. CASE PRESENTATION: A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature. After extensive medical testing, she was given a diagnosis of hypophosphatemic rickets and growth hormone deficiency and started on treatment. Despite appropriate treatment, however, her condition continued to progress, prompting her family to pursue additional workup including genetic testing outside of Yemen. Genetic testing ultimately revealed a variation of unknown significance associated with amelogenesis imperfecta. CONCLUSIONS: Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. However, the patient's condition did not improve. Further genetic testing revealed a variation of unknown significance associated with amelogenesis imperfecta. We aim to present this case, provide an overview of the causes, and diagnostic metabolic bone health evaluation.

Amelogenesis imperfecta: More than just an enamel problem.

OBJECTIVES: This article will provide an overview of the clinical presentation, treatment considerations, and sequencing of treatment for a patient with amelogenesis imperfecta (AI). The different types and subgroups of AI will be described, focusing on Type I hypoplastic form of the condition. OVERVIEW: Patients with AI all have abnormal enamel formation but some may also present with vertical dysgnathia, anterior open bite, and posterior crossbite. A case report demonstrates the sequencing and implementation of necessary orthodontic and prosthodontic treatments, beginning in the mixed dentition and ending with esthetic and functional permanent restorations in the permanent dentition. CLINICAL SIGNIFICANCE: AI is a disorder of tooth enamel formation but may also affect the face, jaw relationship, occlusion, compromised esthetics, and can potentially cause psychological damage due to the appearance of the teeth. Treatment of AI should be initiated at a young age.

Digital restorative workflows for developmental dental defects in young patients: A case series.

BACKGROUND: Digital technology is rapidly changing the provision of oral health care, although its adoption for the oral health care of young patients has lagged. The authors describe digitally supported treatment approaches for managing treatment of developmental dental defects in the early permanent dentition. CASE DESCRIPTION: Four adolescent patients with amelogenesis imperfecta received transitional anterior restorations for esthetic and functional rehabilitation using a variety of digital workflows. Combinations of restoration type, materials, and fabrication methods were selected to meet the needs of each patient on the basis of their specific amelogenesis imperfecta phenotype and chief symptoms. These cases highlight the application of digital technology in pediatric and adolescent dentistry for managing the treatment of developmental dental defects. PRACTICAL IMPLICATIONS: Digitally supported restorative approaches, as described in this report, offer broad applicability of materials and techniques directed at treating the complex restorative needs of young patients in the transitional and early permanent dentition.

Clinical Performance of Direct Posterior Composite Restorations in Patients with Amelogenesis Imperfecta.

The objective of this study was to analyze and assess the clinical performance of direct composite restorations using a nanohybrid and a nanofill composite material for posterior teeth in patients with amelogenesis imperfecta (AI). This study involved 15 patients between the ages of 14 and 30 years suffering from amelogenesis imperfecta (AI). During the study, the patients received direct composite restorations using either the Clearfil Majesty ES-2 (Kuraray Medical Inc, Tokyo, Japan) and Clearfil Universal Bond (Kuraray) or Filtek Ultimate Universal Restorative (3M ESPE, St Paul, MN, USA) and Single Bond Universal Adhesive (3M ESPE). The evaluations of the restorations were conducted per the modified USPHS criteria at the time of baseline as well as during the first-, second-, third-, and fourth-year follow-up sessions. After four years, it was observed that the cumulative success rate of direct posterior restorations was 98.1% for Clearfil Majesty ES-2 and 92.2% for Filtek Ultimate. During the study one Clearfil Majesty ES-2 restoration and four Filtek Ultimate restorations failed. There was a significant difference between Clearfil Majesty ES-2 and Filtek Ultimate in the color match in posterior restorations after three and four years. The causes of failure included marginal discoloration and caries, as well as fracture of the restoration. Hence, it can be stated that the use of nanohybrid or nanofill composites in posterior direct restorations in patients with AI looks promising. The failure rate of Clearfil Majesty ES-2 was found to be lower than that of Filtek Ultimate restorations. Clinically, the rate of optimum restorations conducted for partial discoloration, marginal adaptation, color match, and surface texture were observed to be higher when Clearfil Majesty ES-2 was used. However, additional studies are needed to assess the clinical performance of direct posterior composite materials in patients with AI.

Patient-reported outcome measures in individuals with amelogenesis imperfecta: a systematic review.

PURPOSE: Amelogenesis imperfecta (AI) is a hereditary condition which affects the composition and structure of enamel in terms of hypoplasia and/or hypomineralization. The condition severely affects patients facing such difficulties as hypersensibility, loss of tooth substance and poor aesthetics. The objective is to perform a systematic review of patient-reported outcome measures (PROMs) in patients with amelogenesis imperfecta. METHODS: Inclusion criteria were articles written in English, including PROMs from patients with amelogenesis imperfecta. The databases PubMed, Scopus and Web of Science were searched on April 27, 2022, and eligible articles were screened. Exclusion criteria were articles based on proxy reports and single case reports. RESULTS: 405 studies were screened in terms of title and abstract, with 31 articles eligible for full-text screening, resulting in a total of 11 articles eligible for inclusion, (articles including 4-82 patients). The content was analyzed, resulting in the outcome divided into seven domains: Oral Health-Related Quality of Life (OHRQoL), Dental fear, Esthetics, Psychosocial factors, Function, Dental hypersensitivity, and Treatment outcome. CONCLUSION: The limited quantity of research on PROMS from patients with AI indicates a significant impact of OHRQoL and daily life. A large variety of approaches have been presented in the articles. Patients report concerns of esthetics, hypersensitivity, function, and a general impact on well-being and social interaction. This highlights the importance for the need of early dental treatment. PROSPERO REGISTRATION NUMBER: 256875.

Public and dental professionals' use of social media to discuss amelogenesis imperfecta.

BACKGROUND: Amelogenesis imperfecta (AI) is an inherited disorder of enamel development that is challenging to treat and often associated with negative patient and parental outcomes. Social media provides a valuable perspective on patients' and dental professionals' experience of AI and dental care. AIM: To explore how the public and dental professionals use social media to discuss AI. DESIGN: A cross-sectional study involving a systemic search of eight social media platforms using the search term 'amelogenesis imperfecta'. Relevant posts were selected using predefined eligibility criteria. Word content of eligible posts was qualitatively analysed using a thematic framework approach. RESULTS: A total of 555 posts were identified, of which 144 were eligible for analysis. For dental professionals, the posts included case reports and seeking and sharing of information. For the public, the posts were related to individuals' experience of AI, dental treatment and outcome of treatment. CONCLUSIONS: Posts from individuals affected by AI suggest a need for better distribution of reliable information and greater support. Case reports indicate that dental professionals find it challenging to recognise AI and determine appropriate treatment options. Social media could potentially be used to inform and support people with AI and allow dental professionals to share information and learning with peers.

Clinical Performance of Direct Composite Restorations in Patients with Amelogenesis Imperfecta - Anterior Restorations.

PURPOSE: To evaluate the clinical performance of direct composite restorations using nanohybrid and nanofill composite materials in anterior teeth in patients with amelogenesis imperfecta (AI). MATERIALS AND METHODS: The study included 15 patients with AI aged 14-30 years. During the study, the patients received anterior direct composite laminate veneer restorations using either a nanohybrid (Clearfil Majesty ES-2 and Clearfil Universal Bond, Kuraray Noritake) or a nanofill resin composite (Filtek Ultimate Universal Restorative and Single Bond Universal Adhesive, 3M Oral Care). The restorations were evaluated according to the modified USPHS criteria at baseline and at 1-, 2-, 3- and 4-year follow-up periods. RESULTS: The cumulative success rate of anterior restorations was 80.5% for nanohybrid and 92.5% for nanofill composite after 4 years. Eight restorations with nanohybrid and three restorations with nanofill resin composites failed. Ten restorations failed due to fracture; the fracture rate was 12.3%. Statistically significant differences were found between nanohybrid and nanofill composites regarding marginal discoloration and surface texture after 3 years. Furthermore, statistically significant differences were observed with respect to color match after 4 years. CONCLUSION: The use of a nanohybrid or nanofill composite for anterior direct restorations in patients with AI was observed to be satisfactory, based on the rate of ideal and clinically acceptable restorations. The primary reason for restoration failure was fracture. The failure rate of nanohybrid composite restorations was higher than with nanofill composite restorations with respect to survival and marginal adaptation criteria.

Multiloop edgewise archwire treatment for a patient with a severe anterior open bite and amelogenesis imperfecta.

Amelogenesis imperfecta is a rare hereditary disorder that affects dental enamel and is often associated with an anterior open bite. Orthodontic treatment of a 16-year-old female patient with hypocalcified amelogenesis imperfecta and a 9-mm anterior open bite was presented. Radiographic examination revealed a steep mandibular plane angle, an increased lower face height, a Class II skeletal pattern, and a convex profile. Additionally, the patient had stainless steel crowns on all upper and lower posterior teeth and composite veneers on the upper anterior teeth. The patient was treated nonsurgically using a multiloop edgewise archwire (MEAW). MEAW mechanics allowed for successful correction of the anterior open bite, with significant reduction in the mandibular plane angle and improvement in the patient's profile. No fixed retainers were used, and the results remained stable 78 months after removal of orthodontic appliances. MEAW mechanics should be considered for patients with large anterior open bites, although this technique requires excellent patient compliance.

Dental management of a pediatric patient with Kohlschutter-Tonz syndrome: A case report.

INTRODUCTION: Kohlschutter-Tonz syndrome (KTS) is a rare, genetic condition, which typically manifests as a triad of symptoms: 1) amelogenesis imperfecta, 2) infantile onset epilepsy, and 3) intellectual disability. The condition poses dental treatment challenges given the manifestation of amelogenesis imperfecta. Additional considerations are needed to medically manage these patients who present with epilepsy and intellectual disability. CASE REPORT: Our patient presented with multiple restorative needs, was treated under general anesthesia, and maintained good oral outcomes with close follow-up. DISCUSSION: To the best of our knowledge, this is the first case report which documents comprehensive dental management of a pediatric patient with KTS.

The emerging roles and therapeutic potential of cyclin M/CorC family of Mg2+ transporters.

Cyclin M (CNNM) and its prokaryotic ortholog CorC belong to a family of proteins that function as Mg2+-extruding transporters by stimulating Na+/Mg2+ exchange, and thereby control intracellular Mg2+ levels. The Mg2+-extruding function of CNNM is inhibited by the direct binding of an oncogenic protein, phosphatase of regenerating liver (PRL), and this inhibition is responsible for the PRL-driven malignant progression of cancers. Studies with mouse strains deficient for the CNNM gene family revealed the importance of CNNM4 and CNNM2 in maintaining organismal Mg2+ homeostasis by participating in intestinal Mg2+ absorption and renal reabsorption, respectively. Moreover, CNNM proteins are involved in various diseases, and gene mutations in CNNM2 and CNNM4 cause dominant familial hypomagnesemia and Jalili syndrome, respectively. Genome wide association studies have also revealed the importance of CNNM2 in multiple major diseases, such as hypertension and schizophrenia. Collectively, the molecular and biological characterizations of CNNM/CorC show that they are an intriguing therapeutic target; the current status of drug development targeting these proteins is also discussed.

Enfoque de Tratamiento de una Adolescente con Amelogénesis Imperfecta / Treatment Approach for an Adolescent with Amelogenesis Imperfecta

La amelogénesis imperfecta (AI) es un grupo de tras-tornos hereditarios, clínica y etiológicamente hete-rogéneos, derivados de mutaciones genéticas, que se caracterizan por anomalías cualitativas y cuanti-tativas del desarrollo del esmalte, pudiendo afectar la dentición primaria y/o permanente. El tratamiento del paciente con AI es complejo y multidiscliplinario; supone un desafío para el odontólogo, ya que por lo general están involucradas todas las piezas dentarias y afecta no solo la salud buco dental sino el aspecto emocional y psicológico de los pacientes. Con el obje-tivo de describir el tratamiento integral y rehabilita-dor realizado en una paciente con diagnóstico de AI tipo III, se reporta el caso de un adolescente de sexo femenino de 13 años, que concurrió en demanda de atención a la Cátedra de Odontología Integral Niños de la Facultad de Odontología de la Universidad de Buenos Aires (FOUBA), cuyo motivo de consulta fue la apariencia estética y la hipersensibilidad de sus pie-zas dentarias. Durante el examen clínico intraoral, se observó que todas las piezas dentarias presentaban un esmalte rugoso, blando, con irregularidades y una coloración amarronada, compatible con diagnóstico de Amelogénesis Imperfecta tipo III hipomineralizada. Conclusión: El tratamiento rehabilitador de la AI en los pacientes en crecimiento y desarrollo estará diri-gido a intervenir de manera integral y temprana para resolver la apariencia estética y funcional, evitar las repercusiones sociales y emocionales, y acompañar a los pacientes y sus familias (AU)

Amelogenesis imperfecta (AI) is a group of clinically and etiologically heterogeneous hereditary disorders, derived from genetic mutations, characterized by qualitative and quantitative anomalies of enamel development, which can affect primary and/or permanent dentition. The treatment of patients with AI is complex and multidisciplinary, it is a challenge for the dentist, since in general all the teeth are involved and it affects not only oral health but also the emotional and psychological aspect of the patients. Objective: To describe the comprehensive and rehabilitative treatment carried out in an adolescent patient with a diagnosis of type III AI. Case report: The case of a 13-year-old female patient, who required dental attention at the Department of Dentistry for Children of the School of Dentistry of the University of Buenos Aires, whose reason for consultation was esthetic appearance and hypersensitivity of her teeth. In the intraoral clinical examination, it was observed that all the teeth had rough, soft enamel, with irregularities and a brownish color, compatible with the diagnosis of type III hypomineralized Amelogenesis Imperfecta. Conclusion: Rehabilitative treatment of AI in growing and developing patients will be aimed at early and comprehensive intervention to resolve esthetic and functional appearance, avoid social and emotional repercussions and accompany patients and their families (AU)

[Amelogenesis imperfecta and anterior open bite: how to optimize patient management? A review of the literature]. / Amélogenèse imparfaite héréditaire et béance antérieure : comment optimiser la prise en charge ? Une revue de la littérature.

INTRODUCTION: Amelogenesis imperfecta is a genetic disease, characterized by a structural defect of the enamel and has variable clinical expressions. It can be isolated or associated as part of a syndrome. Three clinical forms exist: hypoplastic, hypomature and hypomineralized. DISCUSSION: Enamel fragility involves dentin exposure and dental hypersensitivity as frequent consequences. Some severe forms are mainly associated with an anterior open bite. The care of these patients constitutes a real challenge for the dentist. Materials et Methods: A literature review was carried out using the PubMed, Web of Science and Scopus interfaces over the past ten years in order to highlight the different treatment options available. CONCLUSION: From conservative to surgical treatment, it is necessary to develop a collaboration between the orthodontist and the pediatric dentist in order to offer multidisciplinary care adapted to the patient's needs.

Interdisciplinary treatment of a patient with amelogenesis imperfecta: Case report with a 35-year follow-up.

OBJECTIVE: This case will illustrate the interdisciplinary management of an adolescent female patient with amelogenesis imperfecta (AI). It will contrast this approach and compare it to the previous "multidisciplinary" treatment rendered before the patient was referred for a second opinion. CLINICAL CONSIDERATIONS: The patient had a family history of AI affecting all of her permanent teeth. There were many impacted teeth. The majority of her family and relatives afflicted by this opted for dentures. The patient had undergone 2 years of treatment and was told that her "braces would be removed next week." Her new dentist was concerned because the case was not ready to restore. CONCLUSION: He recommended referral to another orthodontist for a second opinion and formulation of an interdisciplinary treatment plan that would include a periodontist, endodontist, and restorative dentist. The patient's family accepted the second opinion referral and restarted treatment with an interdisciplinary team. The restorative dentist was the quarterback for this integrated and sequenced approach. The case was ultimately restored. A 35 year follow-up shows stability with a caries free, periodontally healthy, esthetic result.

Management of Amelogenesis Imperfecta in Childhood: Two Case Reports.

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

The burden of dental care in Amelogenesis Imperfecta paediatric patients in the UK NHS: a retrospective, multi-centred analysis.

PURPOSE: The burden of dental care in Amelogenesis Imperfecta (AI) has not been well described. This condition results in weak, discoloured and often sensitive teeth. Specialist paediatric care is available for AI patients in the UK, but treatment protocols and care provided are inconsistent. The aim of this study was therefore to analyse the provision of treatment and burden of care for children and families with AI across four Paediatric Dentistry centres in the UK. METHODS: A retrospective evaluation of AI patient clinical records across four UK consultant-led Paediatric Dentistry centres was completed. Frequency and duration of care were recorded along with treatment and experience of inhalation sedation, local and general anaesthetic. RESULTS: In total, 138 records were available for analysis. The average patient age at first referral was 7.7 years (range 1-16 years) and families travelled an average 21.8 miles per appointment (range 0.2-286 miles). Patients attended on average 4.5 appointments per year for 5.8 years. In total, 65.2% had experience of local anaesthetic, 27.5% inhalation sedation and 31.9% general anaesthetic. Dental treatment including restorations and extractions were commonly required on multiple teeth per patient. CONCLUSION: AI carries a high burden of specialist dental care to patients and families. Specialist centres are required to provide longitudinal, comprehensive care.