Dentinogenesis imperfecta | |
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Oral photographs from an individual with Dentinogenesis imperfecta | |
Specialty | Dentistry |
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). [1] [2] [3] [4] [5] It is one of the most frequently occurring autosomal dominant features in humans. [6] Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people. [7]
This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen. [2] [3] [8] [5] [9] Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. [2] [3] [4] [5] [8] These problems can affect baby (primary/deciduous) teeth alone, or both baby teeth and adult (permanent) teeth, with the baby teeth usually more severely affected. [5] [8]
Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes calcification or metabolisation of calcium can also result in anomalous dentine.
This is the most widely used classification for dentinogenesis imperfecta, and sub-divides the condition into 3 types:
DI associated with Osteogenesis Imperfecta (OI). [2] [5] [10] Type of DI with similar dental abnormalities usually an autosomal dominant trait with variable expressivity but can be recessive if the associated osteogenesis imperfecta is of recessive type. [11]
Recent genetic studies have identified that mutations in the genes coding for the collagen type 1 proteins, COL1A1 and COL1A2, are associated with this type of DI. [2] [8]
Not all individuals with OI have dentinogenesis imperfecta, and the prevalence of DI varies depending on the sub-type of OI:
DI not associated with OI. Occurs in people without other inherited disorders (i.e. Osteogenesis imperfecta). It is an autosomal dominant trait. A few families with type II have progressive hearing loss in addition to dental abnormalities. Also called hereditary opalescent dentin. [12]
Brandywine isolate. This type is rare with occurrences only in the secluded populations in Maryland, USA. [3] [13] [14] Similar to DI type II, this type is also not associated with OI. [2] Its predominant characteristic is bell-shaped crowns, especially in the permanent dentition. Unlike Types I and II, it involves teeth with shell-like appearance and multiple pulp exposures. [12]
Mutations in the gene coding for the dentine sialophosphoprotein (DSPP) are associated with DI type II and III. DSPP is a polypeptide which gives rise to 3 proteins; dentine sialoprotein (DSP), dentine glycoprotein (DGP), and dentine phosphoprotein (DPP). The DPP protein is thought to contribute to hydroxyapatite crystal formation and growth, a fundamental crystal which is widely distributed in mineralised dentine and enamel. The function of the DGP and DSP proteins is not well understood. [2] [3] [4]
Genetic studies have shown that type II and III may be the same sub-type of dentinogenesis imperfecta, differing only by the severity. [4]
de La Dure-Molla, Foruner and Berdal (2015) have proposed a new classification to supersede the Shield Classification (1973). This new classification is designed to overcome the shortcomings of its predecessor, mainly the clinical difficulty in using the Shield classification due to the overlapping signs & symptoms between the sub-types. [3]
In this classification, the authors propose that the DSPP (dentine sialophosphoprotein) diseases, that is dentinogenesis imperfecta and dentine dysplasia, are jointly named "Dentinogenesis imperfecta", and sub-types are determined according to the severity of the condition. There are a few exceptions:
Primary (baby) teeth are moderately affected.
Permanent (adult) teeth are not discoloured, or the discolouration is mild (grey colour). Little or no attrition (tooth wear) is evident. The crown of the teeth may be bulbous and markedly constricted at the cemento-enamel junction (CEJ).
Radiographically, evidence of partial pulp obliteration with a "thistle-shaped appearance". [3]
Teeth are moderately discoloured (blue, grey or amber opalescent). More attrition is evident with shortening of crown height. Crowns may appear bulbous with prominent constriction at the CEJ.
Radiographically, the pulp is small or is totally obliterated. Roots appear thinner and shorter than average. There may be periapical pathology. [3]
Teeth are markedly discoloured (brown opalescent). The crowns are very short due to severe attrition. Crowns may appear bulbous with prominent constriction at the CEJ.
Radiographically, pulp appears large and the dentine layer is thin ("shell teeth" as described in Presentation section). Roots are thin and short. There may be multiple periapical pathologies. [3]
This sub-type is used in place of Shields' dentine dysplasia type I, in which only the roots of the teeth are affected.
Both primary and permanent teeth are affected.
The teeth appear normal clinically. Radiographically, the roots are shorter and fused together with a rounded apex. [3]
Clinical features include:
The baby (primary) teeth are usually more severely affected than adult (permanent) teeth. [3] [5] [8]
Enamel is usually lost early because it is further inclined to attrition due to loss of scalloping at the dentinoenamel junction (DEJ). It was suggested that the scalloping is beneficial for the mechanical properties of teeth as it reinforces the anchor between enamel and dentine. [15] However, the teeth are not more susceptible to dental caries than normal ones.
Periodontal disease, or gum disease, is a common finding amongst individuals with dentinogenesis imperfecta despite no clinical findings of tooth decay (dental caries). The reason for this is currently not well understood. [3]
Certain patients with dentinogenesis imperfecta will suffer from multiple periapical abscesses apparently resulting from pulpal strangulation secondary to pulpal obliteration or from pulp exposure due to extensive coronal wear. They may need apical surgery to save the involved teeth. [12]
Note that, although dentine exposure is a common clinical finding, individuals with dentinogenesis imperfecta usually do not experience tooth sensitivity as the exposed dentine is typically sclerosed (hardened), thereby appearing glassy/shiny. [2]
Radiographic features include:
Clinical and radiographic features can be categorised by the sub-type of dentinogenesis imperfecta (see Shield's Classification in the Classification section):
Clinically, both the baby (primary) and adult (permanent) teeth often appear amber coloured and translucent, and show signs of severe attrition. Primary teeth have a more obvious appearance as they have a thinner layer of enamel overlying dentine, hence the abnormal color of dentine is more noticeable. [2]
Radiographically, affected teeth have short and narrow roots, and obliterated pulps due to dentine hypertrophy before or shortly after tooth eruption. [2]
The severity of these features is variable, with some teeth presenting with total obliteration of the pulp, while other teeth appear to have normal, healthy dentine. [2]
Some type I cases present with no clinical findings, with only radiographic abnormalities. [4]
Type II has a similar clinical and radiographic appearance to type I [16] with some distinguishing features:
Similar clinical and radiographic features to that of type I and II are apparent for the adult (permanent) teeth. The main distinguishing feature is "shell teeth", a term used to describe the unique appearance of the baby (primary) teeth; the primary teeth have multiple pulp exposures and radiographically appear hollow as the dentine layer is thin (dentine hypotrophy) and the pulp chamber is very large. [2] [3] [4] [14]
The enamel has a regular structure, however, there are abnormalities in the structure of dentine and at the amelo-dentinal junction. [4] [5] These abnormalities include:
To determine if the condition has been inherited, it is suggested to ask if any other family member has Dentinogenesis imperfecta. A lack of family history may indicate that the condition was acquired. [2]
It is suggested that the dental/medical professional establish if the condition is a syndrome of another inherited condition such as:
[This is not a comprehensive list]
It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes:
Common dental features of osteogenesis imperfecta include:
Preventive and restorative care are important as well as esthetics as a consideration. This ensures preservation of the patient's vertical face height between their upper and lower teeth when they bite together. The basis of treatment is standard throughout the different types of DI where prevention, preservation of occlusal face height, maintenance of function, and aesthetic needs are priority. Preventive efforts can limit pathology occurring within the pulp, which may render future endodontic procedures less challenging, with better outcomes.
Preservation of occlusal face height may be tackled by use of stainless steel crowns which are advocated for primary teeth where occlusal face height may be hugely compromised due to loss of tooth tissue as a result of attrition, erosion of enamel. [14]
In most cases, full-coverage crowns or veneers (composite/porcelain) are needed for aesthetic appearance, as well as to prevent further attrition. [9] Another treatment option is bonding, putting lighter enamel on the weakened enamel of the teeth and with many treatments of this bonding, the teeth appear whiter to the eye, but the teeth on the inside and under that cover are still the same. Due to the weakened condition of the teeth, many common cosmetic procedures such as braces and bridges are inappropriate for patients with Dentinogenesis imperfecta and are likely to cause even more damage than the situation they were intended to correct.
Dental whitening (bleaching) is contraindicated although it has been reported to lighten the color of DI teeth with some success; however, because the discoloration is caused primarily by the underlying yellow-brown dentin, this alone is unlikely to produce normal appearance in cases of significant discoloration. [12]
If there is considerable attrition, overdentures may be prescribed to prevent further attrition of remaining teeth and for preserving the occlusal face height. [14]
Bisphosphonates have recently been introduced to treat several bone disorders, which include osteogenesis imperfecta.[ citation needed ]
A recognized risk of this drug relevant to dental treatments is bisphosphonate-associated osteonecrosis of the jaw (BRONJ). [20] [21] Occurrences of this risk is associated with dental surgical procedures such as extractions.
Dental professionals should therefore proceed with caution when carrying out any dental procedures in patients who have Type 1 DI who may be on bisphosphonate drug therapy.[ citation needed ]
Human teeth function to mechanically break down items of food by cutting and crushing them in preparation for swallowing and digesting. As such, they are considered part of the human digestive system. Humans have four types of teeth: incisors, canines, premolars, and molars, which each have a specific function. The incisors cut the food, the canines tear the food and the molars and premolars crush the food. The roots of teeth are embedded in the maxilla or the mandible and are covered by gums. Teeth are made of multiple tissues of varying density and hardness.
Dentin or dentine is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth. It is usually covered by enamel on the crown and cementum on the root and surrounds the entire pulp. By volume, 45% of dentin consists of the mineral hydroxyapatite, 33% is organic material, and 22% is water. Yellow in appearance, it greatly affects the color of a tooth due to the translucency of enamel. Dentin, which is less mineralized and less brittle than enamel, is necessary for the support of enamel. Dentin rates approximately 3 on the Mohs scale of mineral hardness. There are two main characteristics which distinguish dentin from enamel: firstly, dentin forms throughout life; secondly, dentin is sensitive and can become hypersensitive to changes in temperature due to the sensory function of odontoblasts, especially when enamel recedes and dentin channels become exposed.
Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth. Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.
Abfraction is a theoretical concept explaining a loss of tooth structure not caused by tooth decay. It is suggested that these lesions are caused by forces placed on the teeth during biting, eating, chewing and grinding; the enamel, especially at the cementoenamel junction (CEJ), undergoes large amounts of stress, causing micro fractures and tooth tissue loss. Abfraction appears to be a modern condition, with examples of non-carious cervical lesions in the archaeological record typically caused by other factors.
The enamel organ, also known as the dental organ, is a cellular aggregation seen in a developing tooth and it lies above the dental papilla. The enamel organ which is differentiated from the primitive oral epithelium lining the stomodeum. The enamel organ is responsible for the formation of enamel, initiation of dentine formation, establishment of the shape of a tooth's crown, and establishment of the dentoenamel junction.
Dentinogenesis is the formation of dentin, a substance that forms the majority of teeth. Dentinogenesis is performed by odontoblasts, which are a special type of biological cell on the outer wall of dental pulps, and it begins at the late bell stage of a tooth development. The different stages of dentin formation after differentiation of the cell result in different types of dentin: mantle dentin, primary dentin, secondary dentin, and tertiary dentin.
Dentin hypersensitivity is dental pain which is sharp in character and of short duration, arising from exposed dentin surfaces in response to stimuli, typically thermal, evaporative, tactile, osmotic, chemical or electrical; and which cannot be ascribed to any other dental disease.
Dens invaginatus (DI), also known as tooth within a tooth, is a rare dental malformation and a developmental anomaly where there is an infolding of enamel into dentin. The prevalence of this condition is 0.3 - 10%, affecting males more frequently than females. The condition presents in two forms, coronal involving tooth crown and radicular involving tooth root, with the former being more common.
Dens evaginatus is a rare odontogenic developmental anomaly that is found in teeth where the outer surface appears to form an extra bump or cusp.
Taurodontism is defined as the enlargement of pulp chambers with the furcation area being displaced toward the apex of the root of a tooth. It cannot be diagnosed clinically and requires radiographic visualization since the crown of a taurodontic tooth appears normal and its distinguishing features are present below the alveolar margin. Taurodontism can present in deciduous or permanent dentition, unilaterally or bilaterally, but is most common in the permanent molar teeth of humans. The underlying mechanism of taurodontism is the failure or late invagination of Hertwig's epithelial root sheath, which leads an apical shift of the root furcation.
Dentin dysplasia (DD) is a rare genetic developmental disorder affecting dentine production of the teeth, commonly exhibiting an autosomal dominant inheritance that causes malformation of the root. It affects both primary and permanent dentitions in approximately 1 in every 100,000 patients. It is characterized by the presence of normal enamel but atypical dentin with abnormal pulpal morphology. Witkop in 1972 classified DD into two types which are Type I (DD-1) is the radicular type, and type II (DD-2) is the coronal type. DD-1 has been further divided into 4 different subtypes (DD-1a,1b,1c,1d) based on the radiographic features.
Dental attrition is a type of tooth wear caused by tooth-to-tooth contact, resulting in loss of tooth tissue, usually starting at the incisal or occlusal surfaces. Tooth wear is a physiological process and is commonly seen as a normal part of aging. Advanced and excessive wear and tooth surface loss can be defined as pathological in nature, requiring intervention by a dental practitioner. The pathological wear of the tooth surface can be caused by bruxism, which is clenching and grinding of the teeth. If the attrition is severe, the enamel can be completely worn away leaving underlying dentin exposed, resulting in an increased risk of dental caries and dentin hypersensitivity. It is best to identify pathological attrition at an early stage to prevent unnecessary loss of tooth structure as enamel does not regenerate.
Dental pertains to the teeth, including dentistry. Topics related to the dentistry, the human mouth and teeth include:
Cracked tooth syndrome (CTS) is where a tooth has incompletely cracked but no part of the tooth has yet broken off. Sometimes it is described as a greenstick fracture. The symptoms are very variable, making it a notoriously difficult condition to diagnose.
Dentin sialophosphoprotein is a precursor protein for other proteins found in the teeth. It is produced by cells (odontoblasts) inside the teeth, and in smaller quantities by bone tissues. It is required for normal hardening (mineralisation) of teeth. During teeth development, it is broken down into three proteins such as dentin sialoprotein (DSP), dentin glycoprotein (DGP), and dentin phosphoprotein (DPP). These proteins become the major non-collagenous components of teeth. Their distribution in the collagen matrix of the forming dentin suggests these proteins play an important role in the regulation of mineral deposition. Additional evidence for this correlation is phenotypically manifested in patients with mutant forms of dentin sialophosphoprotein. Such patients suffer dental anomalies including type III dentinogenesis imperfecta.
Dentin sialoprotein is a protein found in teeth. It is one of the two proteins produced by the segmentation of dentin sialophosphoprotein. Dentin sialoprotein can be found in the dentin immediately subjacent to cellular cementum, but not subjacent to acellular fibrous cementum.
Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel as a result of abnormal enamel formation via amelogenesis.
Pulp stones are nodular, calcified masses appearing in either or both the coronal and root portion of the pulp organ in teeth. Pulp stones are not painful unless they impinge on nerves.
Tricho–dento–osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North Carolina. The cause of this disease is a mutation in the DLX3 gene, which controls hair follicle differentiation and induction of bone formation. All patients with TDO have two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish colored teeth, thin and/or possibly pitted enamel, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. Additionally, severe underbites where the top and bottom teeth fail to correctly align may be present; it is common for the affected individual to have a larger, more pronounced lower jaw and longer bones. The physical deformities that TDO causes become more noticeable with age, and emotional support for the family as well as the affected individual is frequently recommended. Adequate treatment for TDO is a team based approach, mostly involving physical therapists, dentists, and oromaxillofacial surgeons. Genetic counseling is also recommended.
Tooth discoloration is abnormal tooth color, hue or translucency. External discoloration is accumulation of stains on the tooth surface. Internal discoloration is due to absorption of pigment particles into tooth structure. Sometimes there are several different co-existent factors responsible for discoloration.
This article incorporates public domain text from The U.S. National Library of Medicine