Dentinogenesis Imperfecta: A Case Report

Chapter 7 - Heat-Related Changes in Tooth Color

Oral findings in osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones and skeletal deformities. Individuals with OI may have dental abnormalities such as dentinogenesis imperfecta (DI) type I, malocclusions, and unerupted or missing teeth. This review comprehensively examines these dental abnormalities to assess their prevalence among the OI population and explore potential differences across different clinical types of OI and pathogenic variants. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, and Web of Science was conducted that included articles up to June 2024. Out of 672 articles screened, 34 were included. The included studies confirmed that dental abnormalities are prevalent in OI, with DI prevalence ranging from approximately 20 to 48%. Those with a more severe skeletal phenotype (OI type III/IV) exhibited more dental abnormalities than those with a milder skeletal phenotype (OI type I). Notably, OI type V individuals generally do not have DI, although a few isolated cases have been reported. The prevalence of occlusion types varied: Class I occlusion ranged from 14.8 to 50% and Class II malocclusion ranged from 0 to 37.5%, while Class III malocclusion from 4.1 to 84%. This differs from the general population, where Class III malocclusion is typically the least common. Open bites, cross-bites, and unerupted and missing teeth are also commonly reported, particularly in OI types III and IV. This review emphasizes the need for comprehensive dental examinations in OI due to the high prevalence of dental abnormalities. Additionally, the review draws attention to the lack of clear guidelines for diagnosing DI.

By the Shields classification, articulated over 30 years ago, inherited dentin defects are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is osteogenesis imperfecta (OI) with DGI. OI with DGI is caused, in most cases, by mutations in the 2 genes encoding type I collagen. Many genes are required to generate the enzymes that catalyze collagen's diverse post-translational modifications and its assembly into fibers, fibrils, bundles, and networks. Rare inherited diseases of bone are caused by defects in these genes, and some are occasionally found to include DGI as a feature. Appreciation of the complicated genetic etiology of DGI associated with bony defects splintered the DGI type I description into a multitude of more precisely defined entities, all with their own designations. In contrast, DD-II, DGI-II, and DGI-III, each with its own pattern of inherited defects limited to the dentition, have been found to be caused by various defects in DSPP (dentin sialophosphoprotein), a gene encoding the major non-collagenous proteins of dentin. Only DD-I, an exceedingly rare condition featuring short, blunt roots with obliterated pulp chambers, remains untouched by the revolution in genetics, and its etiology is still a mystery. A major surprise in the characterization of genes underlying inherited dentin defects is the apparent lack of roles played by the genes encoding the less-abundant non-collagenous proteins in dentin, such as dentin matrix protein 1 (DMP1), integrin-binding sialoprotein (IBSP), matrix extracellular phosphoglycoprotein (MEPE), and secreted phosphoprotein-1, or osteopontin (SPP1, OPN). This review discusses the development of the dentin extracellular matrix in the context of its evolution, and discusses the phenotypes and clinical classifications of isolated hereditary defects of tooth dentin in the context of recent genetic data respecting their genetic etiologies.

Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders that affect connective tissue integrity, with bone fragility being the cardinal feature. Evidence of this debilitating disorder dates back to 1000 B.C. Skeletons of mummies from this period reveal abnormal growth patterns similar to those of OI patients. Ivar the Boneless, the Danish prince who led the Scandinavian invasion of England, was believed to have such severe OI that he had to be carried into battle on a shield because he was unable to walk. The hallmarks of OI include bone fragility, osteoporosis, dentinogenesis imperfecta, blue sclera, easy bruising, joint laxity, and scoliosis. The severity of OI symptoms ranges from prenatal death to mild osteopenia without limb deformity. Variations in the clinical manifestations of OI relate directly to the heterogeneity of genetic defects in type I collagen genes (Ibsen 1967; Kuiviniemi, Tromp, and Prockop 1991). Although bone fragility is the hallmark of OI, other tissues in which type I collagen is the primary structural protein are also affected. These include skin, tendon, ligament, and dentin. Diagnosis is based upon clinical, genetic, and radiographic findings. The incidence of OI ranges from 1 per 20,000 to 1 per 50,000 live births (Ashton et al. 1980; Byers and Steiner 1992). There is no predilection for race, gender, or ethnic origin.

Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations. Each of the 15 mutations was found in unrelated families, even though the patients were from a contiguous region surrounding our hospital. Substitutions of serine for glycine were the commonest mutation in both genes; notably, dentinogenesis imperfecta and fractures at birth were detected with higher frequencies in patients with this substitution when compared with other genotypes. The Z score of the bone mineral density of patients with this substitution was also lower than that of patients with other genotypes. Pamidronate treatment significantly increased the Z score in all patients, and increases in the Z score did not correlate with the OI types, causative genes, or genotype. In conclusion, the efficacy of pamidronate treatment does not seem to be related to the genotype of type I collagen in patients with OI.

Introduction Osteogenesis imperfecta (OI) is a human genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. There is variable association of typical extra skeletal manifestations with the disorder, including blue sclera, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, hearing impairment and the presence of Wormian bones on skull radiography1. The most widely used classification of OI distinguished four clinical types2. The most relevant clinical characteristic of all OI t-ypes is bone fragility, the severity of which increases in the order type I < type IV < type III < type II. It is now w-idely recognized that there may be m-any more types of OI than those class-ified by Sillence et al. Some forms of congenital brittle bones have been considered OI and have been added as types V, VI and VII3–5. There is still no perfect consensus about the definition of OI. Plotkin recently proposed defining OI as syndromes resulting from mutations in either COL1A1 or COL1A2 genes, and to group all other syndromes with congenital brittle bones as ‘syndromes resembling OI (SROI)’, pending the identification of their causal mutations6. In the new Nosology and Classification of the Genetic Skeletal disorders7, OI is declined in several forms depending on the severity of the phenotype, whatever the mode of the transmission or the gene involved. We first review the genetic mutations implicated in the eight different types of OI, then, the craniofacial consequences of OI mutations are summarized. * Corresponding author Email: mgoldberg.goldberg004@gmail.com

Chapter X - Diseases of the Musculoskeletal System and Joints correlated to the Oral Tissues

Abstract: Tooth discoloration is one of the causes of loss of aesthetic function of the teeth. The most common way to restore tooth color is bleaching. Bleaching is performed by dentists with prices that tend to be expensive; therefore, natural ingredients that are easy to obtain, safe, and at a lower price are needed. In this study, the natural ingredient to be used was virgin coconut oil (VCO). This study aimed to evaluate the effectiveness of VCO in improving tooth color of discolored teeth. This was an experimental and laboratory study with a pretest-posttest group design. Samples were 24 first premolars divided into four treatment groups with different soaking times in VCO, namely 1 day, 2 days, 3 days and 4 days. Tooth discoloration was measured using a visual method using the Vitapan shade guide. The results of One-way ANOVA test showed a p-value of 0.001 indicating that there were differences in the values of the treatment groups before and after soaking. There was a change in tooth color in each treatment group. The most color change occurred in group 4, followed by group 3, group 2. and the least color change in group 1. In conclusion, virgin coconut oil is effective in improving tooth color with discoloration due to black tea. The most color change occurred in virgin coconut oil soaking for four days. Keywords: virgin coconut oil, change of tooth color; discoloration; black tea Abstrak: Diskolorasi gigi merupakan salah satu penyebab hilangnya fungsi estetika dari gigi-geligi. Salah satu cara yang paling umum dilakukan untuk mengembalikan warna gigi ialah bleaching atau pemutihan gigi. Teknik memutihkan gigi dilakukan oleh dokter gigi, dengan harga yang cenderung mahal, sehingga dibutuhkan bahan alami yang mudah didapat, aman, dan dengan harga yang lebih murah. Pada penelitian ini, bahan alami yang digunakan yaitu minyak kelapa murni atau virgin coconut oil (VCO). Penelitian ini bertujuan untuk mengevaluasi efektifitas VCO terhadap perubahan warna gigi. Jenis penelitian ialah eksperimental laboratorik dengan pretest-posttest group design. Sampel penelitian ialah 24 sampel gigi premolar satu rahang atas atau bawah yang terbagi atas empat kelompok perlakuan dengan perbedaan lama waktu perendaman dalam VCO, yaitu 1 hari, 2 hari, 3 hari dan 4 hari. Perubahan warna gigi diukur dengan metode visual menggunakan shade guide vitapan. Hasil uji One-way Anova mendapatkan nilai p=0,001, yang menunjukkan bahwa terdapat perbedaan nilai dari kelompok perlakuan sebelum dan sesudah perendaman. Perubahan warna gigi terjadi pada setiap kelompok perlakuan, dengan perubahan warna terbesar terjadi pada kelompok 4, diikuti dengan kelompok 3, kelompok 2, dan kelompok 1. Simpulan penelitian ini ialah virgin coconut oil efektif terhadap perubahan warna gigi dengan diskolorasi akibat teh hitam. Perubahan warna terbesar terjadi pada perendaman dalam virgin coconut oil selama empat hari. Kata kunci: minyak kelapa murni; perubahan warna gigi; diskolorasi gigi; teh hitam

Clinical Features of Osteogenesis Imperfecta in Taiwan

Objective measurement of dental color for age estimation by spectroradiometry

Introduction Discoloration of endodontically treated teeth is an aesthetic concern. The primary causes include persistent pulpal tissue breakdown and the use of various irrigants. This study compared the effects of different endodontic irrigants on tooth color stability over time. Materials and Methods Eighty single-rooted human central incisors were allocated into eight groups ( G ): G1, G2, G3, G6, and G7 used sodium hypochlorite and silver-based compounds; G4 received Photodynamic Therapy (PDT); G5 received combined PDT and NaOCl; and G8 was treated with 0.9% normal saline. Tooth shade was assessed at baseline (T0), after 1 (T1), 7 (T2), 14 (T3), and 28 days (T4) using a spectrophotometer. Results At T1, G5 showed the least color change (ΔE), while G2 had the most ( p &lt;0.05). By T2, G1 had lower ΔE values than G3 and G7 ( p &lt;0.05). At T3, G5 showed the least ΔE changes compared to G2, G3, G6, and G7 ( p &lt;0.05). Conversely, G7 had the highest ΔE compared to G1 and G4 ( p &lt;0.05). At T4, G7, G6, G2, and G3 exhibited higher ΔE than G5, G4, G1, and G8 ( p &lt;0.05). Discussion Silver-based irrigants caused significant darkening due to silver deposits in dentinal tubules and silver-protein precipitates. Sodium hypochlorite caused fewer changes due to its crystallization potential. Photodynamic therapy led to color changes above clinical thresholds, but its combination with NaOCl reduced discoloration to imperceptible levels. Silver-based irrigants should be used cautiously in anterior teeth due to their high staining potential. Conclusion Root canal irrigants induced varying degrees of tooth color changes. Among them, silver fluoride caused the most significant early darkening, while the combination of photodynamic therapy with sodium hypochlorite resulted in minimal darkening over time.

We used transmission immunoelectron microscopy and polyclonal antibodies to study the reactivities of Types III and VI collagen in dentin of normal human permanent and primary teeth and in primary teeth from five patients with dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta and occurring as a single trait. In the normal permanent tooth, reactivity of Type III collagen was occasional and, where present, peritubular. Staining of normal primary teeth was less occasional but still rare, whereas the abnormal dentin stained more uniformly. Atypical, non-striated fibrillar structures that also showed Type III collagen reactivity were observed in dentin of two of the three patients with DI as a single trait. Later, these two patients proved to be first cousins. Unlike antibodies to the N-terminal pro-peptide of Type I pro-collagen, antibodies to the C-terminal telopeptide of Type I collagen, used for comparison stained the affected dentin homogeneously. Reactivity of Type VI collagen, not detected in normal teeth, was seen in the dentin of all abnormal teeth, in association with non-fibrillar delicate material. This study also shows that although readily detectable in dentin affected by DI, Type III collagen is a minor constituent of normal human dentin matrix.

Effect of fixed orthodontic appliances bonded with different etching techniques on tooth color: A prospective clinical study