Matrix Metalloproteinase 20
Dental Enamel Hypoplasia
Microscopy, Electron, Scanning
Unusual indelible enamel staining following fixed appliance treatment. (1/76)Two cases are described of indelible enamel staining following fixed appliance therapy. The acquired pigmentation occurred in patients with an identifiable enamel defect prior to treatment. The interaction of factors to cause the staining is discussed and it's prevention in future cases highlighted. Subsequent restoration of the affected teeth is shown. (+info)
Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. (2/76)Dental enamel is the hardest tissue in the body and cannot be replaced or repaired, because the enamel secreting cells are lost at tooth eruption. X-linked amelogenesis imperfecta (MIM 301200), a phenotypically diverse hereditary disorder affecting enamel development, is caused by deletions or point mutations in the human X-chromosomal amelogenin gene. Although the precise functions of the amelogenin proteins in enamel formation are not well defined, these proteins constitute 90% of the enamel organic matrix. We have disrupted the amelogenin locus to generate amelogenin null mice, which display distinctly abnormal teeth as early as 2 weeks of age with chalky-white discoloration. Microradiography revealed broken tips of incisors and molars and scanning electron microscopy analysis indicated disorganized hypoplastic enamel. The amelogenin null phenotype reveals that the amelogenins are apparently not required for initiation of mineral crystal formation but rather for the organization of crystal pattern and regulation of enamel thickness. These null mice will be useful for understanding the functions of amelogenin proteins during enamel formation and for developing therapeutic approaches for treating this developmental defect that affects the enamel. (+info)
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (3/76)We experienced a case with severe enamel defects of both the deciduous teeth and all the permanent teeth. In order to clarify the etiology of enamel defects in this patient, we performed a DNA analysis in addition to conventional examinations. Although we suspected a variety of systemic factors causing enamel defects, there was no evidence suggesting disturbances of amelogenesis. In the present case, we suspected a mutation in the amelogenin gene and performed nucleotide sequencing of the exons of the amelogenin gene, but we could not find any evidence of mutation. We suggest that a mutation of some other gene related to enamel formation or the adventitious factors contributed to the amelogenesis imperfecta in this case. (+info)
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (4/76)Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders. (+info)
Dental enamel formation and its impact on clinical dentistry. (5/76)The nature of tooth enamel is of inherent interest to dental professionals. The current-day clinical practice of dentistry involves the prevention of enamel demineralization, the promotion of enamel remineralization, the restoration of cavitated enamel where demineralization has become irreversible, the vital bleaching of dental enamel that has become discolored, and the diagnosis and treatment of developmental enamel malformations, which can be caused by environmental or genetic factors. On a daily basis, dental health providers make diagnostic and treatment decisions that are influenced by their understanding of tooth formation. A systemic condition during tooth development, such as high fever, can produce a pattern of enamel defects in the dentition. Knowing the timing of tooth development permits estimates about the timing of the disturbance. The process of enamel maturation continues following tooth eruption, so that erupted teeth can become less susceptible to decay over time. Mutations in the genes encoding enamel proteins lead to amelogenesis imperfecta, a collection of inherited diseases having enamel malformations as the predominant phenotype. Defects in the amelogenin gene cause X-linked amelogenesis imperfecta, and genes encoding other enamel proteins are candidates for autosomal forms. Here we review our current understanding of dental enamel formation, and relate this information to clinical circumstances where this understanding may be particularly relevant. (+info)
Genetic mutations in certain head and neck conditions of interest to the dentist. (6/76)This article identifies certain syndromes of the head and neck, which a dentist may see in clinical practice, and relates these syndromes to their sites of mutation on involved genes. This paper is timely with the near completion of the Human Genome Project, the mapping of the entire human genetic material. Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments. (+info)
Altered amelogenin self-assembly based on mutations observed in human X-linked amelogenesis imperfecta (AIH1). (7/76)A hallmark of biological systems is a reliance on protein assemblies to perform complex functions. We have focused attention on mammalian enamel formation because it relies on a self-assembling protein complex to direct mineral habit. The principle protein of enamel is amelogenin, a 180-amino acid hydrophobic protein that self-assembles to form nanospheres. We have used independent technical methods, consisting of the yeast two-hybrid (Y2H) assay and surface plasmon resonance (SPR), to demonstrate the importance of amelogenin self-assembly domains. In addition, we have analyzed mutations in amelogenin observed in patients with amelogenesis imperfecta who demonstrate defects in enamel formation. Assessments of self-assembly of these mutant amelogenins by either SPR or Y2H assay yield concordant data. These data support the conclusion that the amelogenin amino-terminal self-assembly domain is essential to the creation of an enamel extracellular organic matrix capable of directing mineral formation. It also suggests that a pathway through which point mutations in the amelogenin protein can adversely impact on the formation of the enamel organ is by disturbing self-assembly of the organic matrix. These data support the utilization of the Y2H assay to search for protein interactions among extracellular matrix proteins that contribute to biomineralization and provide functional information on protein-protein and protein-mineral interactions. (+info)
Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation. (8/76)A 3-week-old boy was diagnosed with congenital osteopetrosis. He underwent a bone marrow transplant at 6 weeks of age. At 3 years of age the primary teeth had all erupted, but the canines and the first molars totally lacked root development. The teeth were smaller in size and had evidence of both enamel hypomineralization and hypoplasia. In the permanent dentition, multiple missing teeth were found. The incisors were conical and the mandibular laterals were extremely small. All permanent teeth had normal eruption. This case shows that dental development and eruption of teeth can be reconstituted in a child with congenital osteopetrosis. Bone marrow transplantation induces normalization of osteoclast function, which is a prerequisite for normal dental development and eruption of teeth. (+info)
1. Sensitive teeth: Teeth with AI may be sensitive to hot or cold temperatures due to the lack of enamel.
2. Tooth decay: Without adequate enamel, teeth with AI are more susceptible to decay.
3. Discolored teeth: Teeth with AI may appear grayish, yellowish, or brownish due to the defective enamel.
4. Difficulty chewing: Depending on the severity of the condition, people with AI may experience difficulty chewing or biting due to the sensitive teeth.
5. Aesthetic concerns: The discoloration and irregular shape of teeth can cause self-esteem issues and affect the overall appearance of the smile.
6. Dental problems: Teeth with AI are more prone to dental problems such as cavities, gum disease, and tooth loss.
7. Speech difficulties: In severe cases, AI can affect the development of the palate and cause speech difficulties.
8. Jaw pain: The improper alignment of teeth can lead to jaw pain and temporomandibular joint (TMJ) disorders.
9. Increased risk of oral infections: The lack of enamel can make teeth more susceptible to bacterial infections.
10. Dental anxiety: People with AI may experience dental anxiety due to the fear of undergoing dental procedures or the stigma associated with the condition.
There is no cure for AI, but various treatments can help manage the symptoms and prevent complications. These may include fluoride applications, dental fillings, crowns, and other restorative procedures to protect the teeth and improve their appearance. In some cases, orthodontic treatment or oral surgery may be necessary to correct bite problems and improve jaw alignment.
The most common symptoms of dental enamel hypoplasia are yellow or brown discoloration of the teeth, sensitivity to hot or cold foods and drinks, and an increased risk of cavities.
Treatment for dental enamel hypoplasia typically involves restorative procedures such as fillings, crowns, or veneers to repair and protect the affected teeth. In severe cases, extraction of the damaged teeth may be necessary. Preventive measures such as good oral hygiene practices, a balanced diet, and avoiding harmful substances like tobacco and excessive sugars can also help manage the condition.
Early detection and treatment of dental enamel hypoplasia are crucial to prevent further damage and improve the appearance and function of the teeth. Dentists may use specialized techniques such as radiographs and clinical examinations to diagnose this condition and recommend appropriate treatments.
1. Bone fractures: The most common symptom of OI is an increased risk of fractures, which can occur with minimal trauma or even without any apparent cause.
2. Dental problems: People with OI may have poorly formed teeth, tooth decay, and gum disease.
3. Short stature: Many individuals with OI are short in stature, due to the effects of chronic fractures and pain on growth and development.
4. Muscle weakness: Some people with OI may experience muscle weakness, particularly in the limbs.
5. Joint problems: OI can cause issues with joint mobility and stability, leading to arthritis and other degenerative conditions.
6. Scoliosis: Curvature of the spine is common in people with OI, which can lead to back pain and respiratory problems.
7. Blue sclerae: A distinctive feature of OI is the presence of blue-colored sclerae (the white part of the eye).
8. Other symptoms: Some people with OI may experience hearing loss, vision problems, and delayed development.
There are several types of OI, each caused by a mutation in a specific gene. The most common forms of OI are type I, type II, and type III. Type I is the mildest form and type III is the most severe. There is no cure for OI, but treatment focuses on managing symptoms and preventing complications. This may include:
1. Bracing and orthotics: To support weakened bones and improve posture.
2. Physical therapy: To maintain muscle strength and flexibility.
3. Pain management: To reduce the risk of chronic pain and improve quality of life.
4. Dental care: Regular dental check-ups and appropriate treatment to prevent tooth decay and gum disease.
5. Respiratory care: To manage breathing problems and prevent respiratory infections.
6. Monitoring for hearing loss: Regular hearing tests to detect any hearing loss and provide appropriate intervention.
7. Early intervention: To help children with OI develop skills and abilities to their full potential.
8. Genetic counseling: For families with a history of OI, to understand the risks and implications for future pregnancies.
It's important for people with OI to work closely with their healthcare provider to manage their condition and prevent complications. With proper care and support, many people with OI can lead active and fulfilling lives.
There are several types of tooth discoloration, including:
1. Extrinsic stains: These are the most common type of tooth discoloration and are caused by factors such as coffee, tea, red wine, and smoking. These stains can be removed with professional cleaning and whitening treatments.
2. Intrinsic stains: These are deeper stains that occur within the tooth itself and can be caused by factors such as fluorosis, tetracycline staining, and overexposure to fluoride during childhood. These stains can be more difficult to remove and may require more advanced treatments such as porcelain veneers or teeth whitening.
3. Age-related discoloration: As we age, our teeth can become naturally more yellow due to the accumulation of calcium and other minerals on the surface of the teeth. This type of discoloration is more common in adults over the age of 40.
4. Trauma: A blow to the mouth or a injury to a tooth can cause discoloration.
5. Disease: Certain medical conditions such as bruxism, gum disease, and enamel defects can also cause tooth discoloration.
Tooth discoloration can be treated with various methods such as teeth whitening, dental bonding, porcelain veneers, and crowns. The choice of treatment depends on the severity and cause of the discoloration. It is important to consult a dentist if you notice any changes in the color of your teeth, as early diagnosis and treatment can help prevent further damage and improve the appearance of your smile.
An open bite can lead to a range of dental problems, including:
* Tooth wear: The excessive wear on the upper and lower teeth can cause them to become weakened and sensitive.
* Gum recession: The continuous pressure on the gums can cause them to recede, exposing the roots of the teeth and increasing the risk of decay and sensitivity.
* Bone loss: The chronic open bite can lead to bone loss in the jaw, which can eventually result in a weakened jaw structure and an altered facial appearance.
* Difficulty chewing and biting food: An open bite can make it challenging to eat certain foods, leading to digestive problems and nutritional deficiencies.
* Aesthetic concerns: An open bite can also affect the appearance of the teeth and face, potentially leading to low self-esteem and confidence issues.
Treatment for an open bite usually involves a combination of orthodontic and restorative dental procedures, such as braces, Invisalign, or dental fillings to correct the alignment of the teeth and close the gap. Surgical options may also be considered in severe cases where the jaw structure needs to be realigned.
It is essential to seek professional dental care if you suspect that you have an open bite, as early treatment can help prevent more significant problems from developing and improve your overall oral health and well-being.
There are two types of tooth resorption:
1. External resorption: This type occurs when the resorption takes place on the surface of the tooth, and is usually caused by an infection or injury.
2. Internal resorption: This type occurs when the resorption takes place within the tooth structure, and can be caused by factors such as a crack or a cavity.
Symptoms of tooth resorption may include sensitivity to hot or cold foods and drinks, pain when biting down, and visible holes or pits on the surface of the tooth. Treatment options for tooth resorption depend on the severity of the condition and can range from fillings to root canal therapy or extraction.
Prevention is key in avoiding tooth resorption, by maintaining good oral hygiene practices such as brushing and flossing regularly, avoiding sugary foods and drinks, and visiting a dentist for regular check-ups. Early detection and treatment can help prevent further damage and save the tooth from being lost.
In conclusion, tooth resorption is a process where the body breaks down and reabsorbs the dentin layer of the tooth, leading to sensitivity, pain, and potentially significant damage to the tooth structure. It can be treated with various methods depending on its severity, but prevention through good oral hygiene practices and regular check-ups is key in avoiding this condition altogether.
1. Congenital abnormalities: These are present at birth and may be caused by genetic factors or environmental influences during fetal development. Examples include hypodontia (absence of one or more teeth), hyperdontia (extra teeth), or anodontia (absence of all teeth).
2. Acquired abnormalities: These can occur at any time during life, often as a result of trauma, infection, or other conditions. Examples include tooth decay, gum disease, or tooth wear and tear.
3. Developmental abnormalities: These occur during the development of teeth and may be caused by genetic factors, nutritional deficiencies, or exposure to certain medications or chemicals. Examples include enamel hypoplasia (thinning of tooth enamel) or peg-shaped teeth.
4. Structural abnormalities: These are irregularities in the shape or structure of teeth, such as anomalies in the size, shape, or position of teeth. Examples include crowded or misaligned teeth, or teeth that do not erupt properly.
5. Dental caries (tooth decay): This is a bacterial infection that causes the breakdown of tooth structure, often leading to cavities and tooth loss if left untreated.
6. Periodontal disease: This is an inflammatory condition that affects the supporting tissues of teeth, including the gums and bone, and can lead to tooth loss if left untreated.
7. Tooth wear: This refers to the wear and tear of teeth over time, often due to habits such as bruxism (teeth grinding) or acid reflux.
8. Dental anomalies: These are rare, genetic conditions that affect the development and structure of teeth, such as peg-shaped teeth or geminated teeth (two teeth fused together).
These are just a few examples of tooth abnormalities, and there are many more conditions that can affect the health and appearance of teeth. Regular dental check-ups can help detect and address any issues early on to ensure good oral health.
Index of oral health and dental articles
List of OMIM disorder codes
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Integrin beta 6
List of diseases (C)
List of MeSH codes (C07)
2019 in primate paleontology
Plane-form enamel hypoplasia
List of MeSH codes (C16)
Amelogenesis imperfecta - About the Disease - Genetic and Rare Diseases Information Center
Amelogenesis imperfecta type 1E - NIH Genetic Testing Registry (GTR) - NCBI
Amelogenesis imperfecta: MedlinePlus Genetics
Amelogenesis imperfecta: MedlinePlus Genetics
Amelogenesis imperfecta - the burden - PubMed
Amelogenesis imperfecta: clinical case report
Amelogenesis Imperfecta in Dogs | Dog Care - Daily Puppy
Composite Bonding For Amelogenesis Imperfecta Case # 5542 - Hampton Dental Associates
Treatment Considerations for Patient with amelogenesis imperfecta: a review | Brazilian Dental Science
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report. | J Med Case Rep;9: 245, 2015 Oct...
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome<...
Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development | National Institute of Dental and...
S-EPMC4424950 - Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta....
Dong J[Author] - Search Results - PubMed
RFA-TR-13-002: Rare Diseases Clinical Research Consortia (RDCRC) for Rare Diseases Clinical Research Network (U54)
Keipert syndrome - Ontology Browser - Rat Genome Database
Frontiers | Epithelial Bone Morphogenic Protein 2 and 4 Are Indispensable for Tooth Development
Early Childhood Caries - StatPearls - NCBI Bookshelf
Introduction to Pathology & Neoplasia Flashcards by Nargis Barkzai | Brainscape
Tatjana Dostalova - NeL.edu
JaypeeDigital | eBook Reader
BDJ Open Volume 9; 2023 - PMC
Hannu Larjava - UBC Professor - Faculty Member - Researcher - Supervisor
Clinical aspects and treatment of amelogenesis imperfect: a case report | Clinical and Laboratorial Research in...
FAM83H - Early...
Rapid Clinical Updates | PG Dental School
Forms of amelogenesis imperfecta2
- A dental examination revealed a hypoplastic amelogenesis imperfecta with a bacterial biofilm deposit on tooth surfaces. (bvsalud.org)
- Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. (omicsdi.org)
- Professors and students of the Dentistry course had difficulty in making treatment decisions on teeth with amelogenesis imperfecta, with mild dental fluorosis and ease on teeth with hypoplasia and dental caries. (bvsalud.org)
- Further studies are necessary to clarify the genetic defect producing this syndrome , and the symptomatic associations of amelogenesis imperfecta , platyspondyly and bicytopenia. (bvsalud.org)
- In genetic conditions such as amelogenesis imperfecta (AI) in which certain enamel proteins are mutated, the teeth of these children are weak and often require repeated and increasingly progressive restorations to regain partial function. (nih.gov)
- Genetic manipulation and proteomic tools have revealed many of the major players in amelogenesis, and both animal models and cell lines have proven useful. (nih.gov)
- Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the disease. (nel.edu)
- Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. (usp.br)
- 13. Hereditary amelogenesis imperfecta. (nih.gov)
- Amelogenesis imperfecta refers to a group of development anomalies of the teeth (also referred as hereditary dysplasia) that affects the genome of the individual and is related to at least one of the stages of enamel formation, being a hereditary characteristic that affects both the deciduous as the permanent dentition. (bvsalud.org)
- In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. (medlineplus.gov)
- Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth , including both primary and permanent dentition . (bvsalud.org)
- Amelogenesis Imperfecta, caused by a chromosomal defect, causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. (hamptondentalassociates.com)
- Mutations in the AMELX , ENAM , MMP20 , and FAM83H genes can cause amelogenesis imperfecta. (medlineplus.gov)
- Enamel formation occurs through the process of amelogenesis, during which ameloblast cells form and secrete the extracellular matrix which eventually matures into the outer hydroxyapatite layer of the tooth. (nih.gov)
- The rodent with its continuously erupting incisor has been a model organism for the study of the continuum of amelogenesis where all the enamel formation stages are visible at once. (nih.gov)
- Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. (omicsdi.org)
- Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). (nih.gov)
- Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. (medlineplus.gov)
- 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. (nih.gov)
- Objectives: This study discusses the clinical characteristics of a case of type IIA amelogenesis imperfecta (hypomatured with diffuse pigmentation), presenting the treatment methods and how this condition affects the patient's quality of life. (usp.br)
- Amelogenesis imperfecta: clinical aspects and treatment. (usp.br)
- Early diagnosis of Amelogenesis Imperfecta is imperative to a more conservative treatment focused on preventing the effects of this pathology. (bvsalud.org)
- A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature. (omicsdi.org)
- imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. (nih.gov)
- The panoramic radiograph showed squared-shaped crowns on incisors and low undefined cusps of molars and premolars, and a radiolucent image on crowns of all permanent teeth, including those in formation, compatible with hypocalcified amelogenesis imperfecta. (bvsalud.org)
- Amelogenesis Imperfecta is a development disorder of the teeth that can present in many ways. (hamptondentalassociates.com)
- Amelogenesis imperfecta is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. (nglf.net)
- When Do Symptoms of Amelogenesis imperfecta Begin? (nih.gov)
- The objectives of this concept are to 1) generate new or improved models for the study of amelogenesis that accurately reflect the developmental stage or physiological process they are intended to represent, and 2) validate those models to ensure they are robust and reproducible. (nih.gov)
- Amelogenesis imperfecta: a classification and catalogue for the 21st century. (medlineplus.gov)
- This small trial found no difference between either Procera or IPS e.max Press crown in amelogenesis imperfecta patients in the short term. (nationalelfservice.net)
- About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. (medlineplus.gov)
Quality of l1
- Trentesaux T, Rousset MM, Dehaynin E, Laumaillé M, Delfosse C. 15-year follow-up of a case of amelogenesis imperfecta: importance of psychological aspect and impact on quality of life. (usp.br)
- Amelogenesis imperfecta is an inherited condition in which the tooth enamel doesn't fully develop. (dailypuppy.com)
- With the right care, dogs with amelogenesis imperfecta can have strong dental health for years. (dailypuppy.com)