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Journal of Medical Case Reports Feb 2021Rehabilitation of the entire dentition with amelogenesis imperfecta (AI) tends to pose a great challenge to the clinician. Most of the cases of amelogenesis imperfecta... (Review)
Review
BACKGROUND
Rehabilitation of the entire dentition with amelogenesis imperfecta (AI) tends to pose a great challenge to the clinician. Most of the cases of amelogenesis imperfecta are reported to be associated with skeletal and dental deformities which results in severe sensitivity of the dental tissues.
CASE PRESENTATION
This clinical case report marks out the total restoration of the oral condition of a young Indian patient diagnosed with the hypoplastic type of amelogenesis imperfecta. Fixed metal ceramic prosthesis were planned to strengthen the masticatory activity, aesthetics, to banish the dental sensitivity and to build up the general persona of the patient. The patient was followed-up at 6 months, 1 year and 2 years intervals. Functional and esthetic impairment was not visible after the follow up period and the treatment outcome was successful. The entire treatment plan was intended to enhance the functional, esthetic and the masticatory component of the occlusal architecture.
CONCLUSION
This case report details the presentation, characteristic radiographic findings, and management of a patient with an extremely rare condition of amelogenesis imperfecta.
Topics: Amelogenesis Imperfecta; Esthetics, Dental; Humans; Patient Care Planning; Treatment Outcome
PubMed: 33557885
DOI: 10.1186/s13256-020-02586-4 -
Orphanet Journal of Rare Diseases Apr 2007Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or... (Review)
Review
Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, sensitive or prone to disintegration. AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamelin gene, ENAM, is implicated in the pathogenesis of the dominant forms of AI. Autosomal recessive AI has been reported in families with known consanguinity. Diagnosis is based on the family history, pedigree plotting and meticulous clinical observation. Genetic diagnosis is presently only a research tool. The condition presents problems of socialisation, function and discomfort but may be managed by early vigorous intervention, both preventively and restoratively, with treatment continued throughout childhood and into adult life. In infancy, the primary dentition may be protected by the use of preformed metal crowns on posterior teeth. The longer-term care involves either crowns or, more frequently these days, adhesive, plastic restorations.
Topics: Adolescent; Adult; Amelogenesis Imperfecta; Amelogenin; Child; Child, Preschool; Dental Enamel; Dental Enamel Proteins; Diagnosis, Differential; Genetic Diseases, X-Linked; Humans; Infant; Kallikreins; Matrix Metalloproteinase 20; Mutation; Syndrome
PubMed: 17408482
DOI: 10.1186/1750-1172-2-17 -
Orphanet Journal of Rare Diseases Nov 2008The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by... (Review)
Review
The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP), suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition. Where diagnosis occurs early in life and treatment follows the outlined recommendations, good aesthetics and function can be obtained.
Topics: Chromosomes, Human, Pair 4; Dentin; Dentin Dysplasia; Dentinogenesis Imperfecta; Extracellular Matrix Proteins; Humans; Phosphoproteins; Sialoglycoproteins
PubMed: 19021896
DOI: 10.1186/1750-1172-3-31 -
International Journal of Environmental... Jul 2021Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an...
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.
Topics: Amelogenesis Imperfecta; Child; Crowns; Dentition, Permanent; Humans; Quality of Life; Self Concept
PubMed: 34281141
DOI: 10.3390/ijerph18137204 -
Folia Morphologica 2018This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6- to 40-year-old patients by using panoramic radiographs.
BACKGROUND
This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6- to 40-year-old patients by using panoramic radiographs.
MATERIALS AND METHODS
This cross-sectional study was conducted by analysing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental ano-malies were divided into 5 types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dys-plasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism).
RESULTS
The prevalence of dental anomalies diagnosed by panoramic radiographs was 39.2% (46% in men and 54% in women). Anomalies of position (60.8%) and shape (27.8%) were the most common types of abnormalities and anomalies of size (8.2%), structure (0.2%) and number (17%) were the least in both genders. Anomalies of impaction (45.5%), dilacerations (16.3%), hypodontia (13.8%) and taurodontism (11.2%) were the most common subtypes of dental anomalies. Taurodontism was more common in the age groups of 13-19 years. The age range of the most frequent of all other anomalies was 20-29.
CONCLUSIONS
Anomalies of tooth position were the most common type of dental anomalies and structure anomalies were the least common in this Turkish po-pulation. The frequency and type of dental anomalies vary within and between populations, confirming the role of racial factors in the prevalence of dental ano-malies. Digital panoramic radiography is a very useful method for the detection of dental anomalies. (Folia Morphol 2018; 77, 2: 323-328).
Topics: Adolescent; Adult; Anodontia; Child; Cross-Sectional Studies; Dental Pulp Cavity; Female; Humans; Male; Prevalence; Radiography, Panoramic; Tooth Abnormalities; Tooth, Impacted
PubMed: 28933802
DOI: 10.5603/FM.a2017.0087 -
Australian Dental Journal Jun 2014Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated... (Review)
Review
Abnormalities of enamel and dentine are caused by a variety of interacting factors ranging from genetic defects to environmental insults. The genetic changes associated with some types of enamel and dentine defects have been mapped, and many environmental influences, including medical illnesses that can damage enamel and dentine have been identified. Developmental enamel defects may present as enamel hypoplasia or hypomineralization while dentine defects frequently demonstrate aberrant calcifications and abnormalities of the dentine-pulp complex. Clinically, developmental enamel defects often present with problems of discolouration and aesthetics, tooth sensitivity, and susceptibility to caries, wear and erosion. In contrast, dentine defects are a risk for endodontic complications resulting from dentine hypomineralization and pulpal abnormalities. The main goals of managing developmental abnormalities of enamel and dentine are early diagnosis and improvement of appearance and function by preserving the dentition and preventing complications. However, despite major advances in scientific knowledge regarding the causes of enamel and dentine defects, further research is required in order to translate the knowledge gained in the basic sciences research to accurate clinical diagnosis and successful treatment of the defects.
Topics: Amelogenesis Imperfecta; Dental Caries; Dental Enamel; Dental Enamel Hypoplasia; Dental Research; Dentin; Dentin Sensitivity; Dentinogenesis Imperfecta; Humans; Tooth Demineralization
PubMed: 24164394
DOI: 10.1111/adj.12104 -
Frontiers in Physiology 2017Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally... (Review)
Review
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and pain. It was first described separately from diseases of dentine nearly 80 years ago, but the underlying genetic and mechanistic basis of the condition is only now coming to light. Mutations in the gene , encoding an extracellular matrix protein secreted by ameloblasts during enamel formation, were first identified as a cause of AI in 1991. Since then, mutations in at least eighteen genes have been shown to cause AI presenting in isolation of other health problems, with many more implicated in syndromic AI. Some of the encoded proteins have well documented roles in amelogenesis, acting as enamel matrix proteins or the proteases that degrade them, cell adhesion molecules or regulators of calcium homeostasis. However, for others, function is less clear and further research is needed to understand the pathways and processes essential for the development of healthy enamel. Here, we review the genes and mutations underlying AI presenting in isolation of other health problems, the proteins they encode and knowledge of their roles in amelogenesis, combining evidence from human phenotypes, inheritance patterns, mouse models, and studies. An LOVD resource (http://dna2.leeds.ac.uk/LOVD/) containing all published gene mutations for AI presenting in isolation of other health problems is described. We use this resource to identify trends in the genes and mutations reported to cause AI in the 270 families for which molecular diagnoses have been reported by 23rd May 2017. Finally we discuss the potential value of the translation of AI genetics to clinical care with improved patient pathways and speculate on the possibility of novel treatments and prevention strategies for AI.
PubMed: 28694781
DOI: 10.3389/fphys.2017.00435 -
Swiss Dental Journal Mar 2021Molar-incisor hypomineralisation (MIH) is clinically defined as demarcated structural enamel defects affecting at least one first permanent molar with or without the...
Molar-incisor hypomineralisation (MIH) is clinically defined as demarcated structural enamel defects affecting at least one first permanent molar with or without the involvement of incisors. It is foremost a qualitative developmental defect of systemic origin. The prevalence for MIH is estimated at 12.9% with significant differences between countries. Its etiology and pathogenesis are still not completely understood. Several environmental and medical causes have been suggested to alter enamel maturation. The hypomineralised enamel may collapse shortly after eruption and as a consequence caries lesions seem more likely to develop. Besides cavitation, hypersensitivity and/or pain are the hallmarks of clinical symptoms. Both are associated with increased dental anxiety and fear of children suffering from MIH. Consequently, patients' care and management are challenging and necessitates a large range of non-, micro- and invasive strategies. MIH might be mixed up with three different other types of developmental defects in the enamel: fluorosis, enamel hypoplasia, and amelogenesis imperfecta. Careful diagnostic differentiation should be made before starting any dental treatment. A recent published classification system links the severity of the lesion to a treatment need index. This index is based on four values regarding two key symptoms: hypersensitivity and post-eruptiv enamel breakdown (PEB). Without PEB sealing is strongly recommended in order to prevent caries. For hypersensitive teeth as well as those with PEB use of glass ionomer cement as an intermediate cover, but mainly composite resins are materials of choice. For improvement of aesthetically compromised MIH-incisors, the resin infiltration technique has been proposed.
PubMed: 33764036
DOI: No ID Found -
International Journal of Dentistry 2021Dentinogenesis imperfecta (DI) and amelogenesis imperfecta (AI) are hereditary abnormalities of dental hard tissues. Dental abnormalities may also be accompanied by... (Review)
Review
Dentinogenesis imperfecta (DI) and amelogenesis imperfecta (AI) are hereditary abnormalities of dental hard tissues. Dental abnormalities may also be accompanied by symptoms of disorders such as osteogenesis imperfecta. AI and DI have a significant burden on socializing, function, and comfort; therefore, frequent screening and accurate diagnosis is the cornerstone of managing such conditions. Both AI and DI could be treated with many strategies, including restorative, prosthetic, periodontal, surgical, and orthodontics treatment. The interdisciplinary combination of orthodontic, prosthodontic, and periodontic treatment has been proven to improve the prognosis of AI and DI. Regarding orthodontic treatment, the most difficult element of orthodontic therapy may be maintaining a high level of motivation for what might be a prolonged form of treatment spanning several years. There are many forms of orthodontic management for AI and DI, including removable appliances, functional appliances, and fixed appliances. Clear aligner therapy (CAT) contains a broad range of equipment that works in different ways, has different construction processes, and is compatible with different malocclusion procedures. The application of CAT in patients with AI and DI is favorable over the fixed applicants. However, the available evidence regarding the application of CAT in AI is weak and heterogeneous. In this review, we discussed the current evidence regarding the application of clear CAT in patients with AI and DI.
PubMed: 34976063
DOI: 10.1155/2021/7343094 -
Journal of Dental Research Mar 2021Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness...
Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness of dental enamel. While the condition is nonsyndromic, it can be associated with other craniofacial anomalies, such as malocclusions and delayed or failed tooth eruption. Truncation mutations in (OMIM *611927) are hitherto the sole cause of ADHCAI. With human genetic studies, knockout and mutation-knock-in mouse models indicated that FAM83H does not serve a critical physiologic function during enamel formation and suggested a neomorphic mutation mechanism causing ADHCAI. The function of FAM83H remains obscure. FAM83H has been shown to interact with various isoforms of casein kinase 1 (CK1) and keratins and to mediate organization of keratin cytoskeletons and desmosomes. By considering FAM83H a scaffold protein to anchor CK1s, further molecular characterization of the protein could gain insight into its functions. In this study, we characterized 9 kindreds with ADHCAI and identified 3 novel truncation mutations: p.His437*, p.Gln459*, and p.Glu610*. Some affected individuals exhibited hypoplastic phenotypes, in addition to the characteristic hypocalcification enamel defects, which have never been well documented. Failed eruption of canines or second molars in affected persons was observed in 4 of the families. The p.Glu610* mutation was located in a gap area (amino acids 470 to 625) within the zone of previously reported pathogenic variants (amino acids 287 to 694). In vitro pull-down studies with overexpressed FAM83H proteins in HEK293 cells demonstrated an interaction between FAM83H and SEC16A, a protein component of the COP II complex at endoplasmic reticulum exit sites. The interaction was mediated by the middle part (amino acids 287 to 657) of mouse FAM83H protein. Results of this study significantly extended the phenotypic and genotypic spectrums of -associated ADHCAI and suggested a role for FAM83H in endoplasmic reticulum-to-Golgi vesicle trafficking and protein secretion (dbGaP phs001491.v1.p1).
Topics: Amelogenesis Imperfecta; Endoplasmic Reticulum; Golgi Apparatus; HEK293 Cells; Humans; Proteins; Vesicular Transport Proteins
PubMed: 33034243
DOI: 10.1177/0022034520962731