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Journal of Oral and Maxillofacial... Jun 2024Segmental odontomaxillary dysplasia (SOD) is a rare and unusual nonhereditary developmental disorder that affects one side of the maxilla, impacting the hard tissue,... (Review)
Review
Segmental odontomaxillary dysplasia (SOD) is a rare and unusual nonhereditary developmental disorder that affects one side of the maxilla, impacting the hard tissue, soft tissue, and dentition in the affected area. It most frequently presents with enlargement of the gingival and osseous tissue of the affected side and hypodontia of the involved quadrant. Cutaneous irregularities of the impacted area are also common. We report a case of SOD arising in the right maxilla of a three-year-old female. Our report and review of the literature highlight the clinical, radiographic, and histopathologic characteristics of SOD, as well as the management of patients and the proposed etiologies of its pathogenesis.
Topics: Humans; Female; Child, Preschool; Odontodysplasia; Maxilla
PubMed: 38552673
DOI: 10.1016/j.joms.2024.03.006 -
The Journal of Clinical Pediatric... Sep 2023Regional odontodysplasia (RO) is a rare developmental abnormality of epithelial and mesenchymal dental tissues. Due to its poorly understood etiology, assessing and...
Regional odontodysplasia (RO) is a rare developmental abnormality of epithelial and mesenchymal dental tissues. Due to its poorly understood etiology, assessing and discussing related clinical cases of this dental anomaly is crucial to guide professionals in improving its treatment and outcomes. This article aimed to report the case of a 9-year-old male patient who presented to our department with the main complaint of absent eruption of permanent left mandibular quadrant teeth. This is the first case reported in China from a patient with multiple cutaneous nevi on the face and neck, and based on the retrieved clinical and radiographic features, we described and discussed the treatment and etiology of RO.
Topics: Male; Humans; Child; Odontodysplasia; Neck; Mandible; Tooth Eruption
PubMed: 37732452
DOI: 10.22514/jocpd.2023.068 -
International Immunology Mar 2021Mutations in DDX58 (DExD/H-box helicase 58), which encodes the cytoplasmic RNA sensor retinoic acid-inducible gene I (RIG-I), were recently identified in the rare...
Mutations in DDX58 (DExD/H-box helicase 58), which encodes the cytoplasmic RNA sensor retinoic acid-inducible gene I (RIG-I), were recently identified in the rare autoimmune disease Singleton-Merten syndrome (SMS). We report the spontaneous development of psoriasis-like skin lesions as an SMS-like symptom in transgenic mice harboring one of the RIG-I SMS variants, E373A. Histological analysis revealed typical characteristics of psoriasis, including the abnormal proliferation and differentiation of keratinocytes leading to epidermal hyperplasia, and infiltrates consisting of neutrophils, dendritic cells and T cells. Levels of the IL-23/IL-17 immune axis cytokines were high in the skin lesions. Rag2-/- transgenic mice showed partial amelioration of the phenotype, with down-regulation of inflammatory cytokines, including IL-17A, suggesting the importance of lymphocytes for the pathogenesis similar to that of human psoriasis. Of note, IL-17A deficiency abolished the skin phenotype, and treatment using the JAK inhibitor tofacitinib not only prevented onset, but also improved the skin manifestations even after onset. Our study provides further evidence for the involvement of RIG-I activation in the onset and progression of psoriasis via type I interferon signaling and the IL-23/IL-17 axis.
Topics: Animals; Aortic Diseases; DEAD Box Protein 58; DNA-Binding Proteins; Dendritic Cells; Dental Enamel Hypoplasia; Epidermis; Hyperplasia; Interferon Type I; Interleukin-17; Interleukin-23 Subunit p19; Janus Kinase Inhibitors; Janus Kinases; Keratinocytes; Metacarpus; Mice; Mice, Inbred C57BL; Mice, Knockout; Muscular Diseases; Neutrophils; Odontodysplasia; Osteoporosis; Piperidines; Psoriasis; Pyrimidines; T-Lymphocytes; Vascular Calcification
PubMed: 33119735
DOI: 10.1093/intimm/dxaa071 -
Clinical Case Reports May 2022Regional odontodysplasia (RO) in permanent teeth is a rare developmental anomaly of mineralized tissues. Three-dimensional images and data from CBCT allowed to provide...
Regional odontodysplasia (RO) in permanent teeth is a rare developmental anomaly of mineralized tissues. Three-dimensional images and data from CBCT allowed to provide useful information on the degree of tooth calcification and consequently confirm the diagnosis of RO and establish a treatment strategy to minimize future damages and sequels.
PubMed: 35600036
DOI: 10.1002/ccr3.5890 -
Journal of Immunology (Baltimore, Md. :... Sep 2019Singleton-Merten syndrome (SMS) is a type I interferonopathy characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, and psoriasis. A...
Singleton-Merten syndrome (SMS) is a type I interferonopathy characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, and psoriasis. A missense mutation in encoding a cytoplasmic viral RNA sensor MDA5 has recently been identified in the SMS patients as well as in patients with a monogenic form of lupus. We previously reported that mice express a constitutively active MDA5 and spontaneously develop lupus-like nephritis. In this study, we demonstrate that the mice also exhibit SMS-like bone abnormalities, including decreased bone mineral density and thin cortical bone. Histological analysis revealed a low number of osteoclasts, low bone formation rate, and abnormal development of growth plate cartilages in mice. These abnormalities were not observed in ・ and ・ mice, indicating the critical role of type I IFNs induced by MDA5/MAVS-dependent signaling in the bone pathogenesis of mice, affecting bone turnover. Taken together, our findings suggest the inhibition of type I IFN signaling as a possible effective therapeutic strategy for bone disorders in SMS patients.
Topics: Animals; Aortic Diseases; Bone Diseases; Bone and Bones; Cartilage; Dental Enamel Hypoplasia; Growth Plate; Interferon-Induced Helicase, IFIH1; Male; Metacarpus; Mice; Mice, Inbred C57BL; Muscular Diseases; Mutation, Missense; Odontodysplasia; Osteoporosis; Vascular Calcification
PubMed: 31366715
DOI: 10.4049/jimmunol.1900354 -
American Journal of Orthodontics and... Sep 2021One of the most challenging problems for orthodontists is that of multiple missing maxillary teeth in a growing patient. In many patients, a good treatment option is...
One of the most challenging problems for orthodontists is that of multiple missing maxillary teeth in a growing patient. In many patients, a good treatment option is autotransplantation. This case report describes the multidisciplinary treatment of an 11-year-old girl with regional odontodysplasia affecting the maxillary right and left central incisors, and congenitally missing maxillary left lateral incisor and canine. Autotransplantation of the mandibular second premolars to the affected area was combined with orthodontic space closure, and the transplanted premolars were reshaped and restored with a resin composite to be in line with the left central and lateral incisors. After completion of the orthodontic treatment, gingivectomy was performed to obtain an even gingival contour and symmetrical gingival tissue. Space closure of the maxillary anterior teeth was achieved. Autotransplantation enabled the patient to retain her natural teeth rather than having a prosthesis or dental implant. The autotransplanted tooth allows for alveolar bone growth in synchrony with neighboring teeth and the formation of normal interdental papilla while adapting to functional stimuli and confers a high survival rate in the long term.
Topics: Anodontia; Bicuspid; Child; Female; Humans; Incisor; Maxilla; Orthodontic Space Closure
PubMed: 34334269
DOI: 10.1016/j.ajodo.2020.06.035 -
Journal of Endodontics Jul 2024Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly...
INTRODUCTION
Regional odontodysplasia (ROD) is a rare developmental disorder characterized by hypo-mineralization and hypoplasia of enamel and dentin. Symptoms include poorly developed tooth buds, delayed eruption of permanent teeth in affected quadrants, and ghost teeth. The affected teeth often become necrotic due to abnormal enamel and dentin development, making them susceptible to caries and infection. The aim of this case report is to describe the treatment of ROD through pulp revascularization.
CASE REPORT
A 13-year-old girl was referred for endodontic treatment. The mandibular left incisors and first premolar, which were affected by regional odontodysplasia, lost their vitality because of the impaired structure of the enamel. Due to the teeth's early developmental stage, a regenerative endodontic treatment was attempted. All 3 teeth were treated using the same protocol following the AAE guidelines. After 4 weeks, treatment of the premolar was completed, whereas the incisor teeth remained symptomatic and were and therefore, intracanal dressing with calcium hydroxide was repeated and left in place for 5 months. Finally, the regenerative procedure was completed, and the crowns were restored. The patient was scheduled for follow-up examinations after 6 months, and then yearly for the next 3 years. After 1 year, the periapical lesion around the central incisor and premolar had resolved, the lesion around the apex of the lateral incisor was healing, and the roots had continued to develop. After 3 years, complete healing and pulp canal obliteration were observed in the central incisor and in the premolar. However, the root of the lateral incisor tooth was split, and it was recommended to extract this tooth.
CONCLUSION
The positive outcomes of regenerative endodontics in the central incisor and premolar suggest that revascularization of the pulp may be optional for the treatment of immature necrotic teeth affected by developmental disorders, such as ROD, amelogenesis imperfecta, or dentinogenesis imperfecta.
Topics: Humans; Adolescent; Female; Regenerative Endodontics; Odontodysplasia; Incisor; Bicuspid; Root Canal Therapy; Dental Pulp Necrosis
PubMed: 38626857
DOI: 10.1016/j.joen.2024.04.006 -
International Journal of Molecular... Oct 2019The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However,...
The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in , , , and , cause the phenotypic expression of HED. Genetic alterations in and cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.
Topics: Ectodermal Dysplasia 1, Anhidrotic; Ectodysplasins; Edar Receptor; Humans; Molecular Dynamics Simulation; Mutation, Missense; Pedigree; Phenotype; Protein Stability; Protein Structure, Tertiary; Exome Sequencing; Wnt Proteins
PubMed: 31652981
DOI: 10.3390/ijms20215282 -
Journal of Dentistry For Children... Jan 2020Segmental odontomaxillary dysplasia (SOD) is a rare craniofacial developmental disorder. Clinical features include abnormal growth and maturation of bone, premolar...
Segmental odontomaxillary dysplasia (SOD) is a rare craniofacial developmental disorder. Clinical features include abnormal growth and maturation of bone, premolar agenesis, delayed eruption of permanent molars, and unilateral posterior maxillary enlargement. Radiographic features include altered bone trabeculae, reduced maxillary sinus, pulp stones, and spontaneous resorption of primary molars. The purpose of this report is to describe the case of a seven-year-old boy who presented with dental pain, erythema of the soft tissues of the right maxillary quadrant, severely infra-occluded primary molars and bony expansion of the maxilla. Surgical exploration under general anesthesia preceded removal of the infraoccluded primary molars and histopathological examination of atypical alveolar bone. The unerupted teeth were examined, mobilized, and left in situ. Following stabilization, a removable prosthesis was constructed to aid esthetics. A comprehensive approach to treatment is indicated in such cases.
Topics: Child; Esthetics, Dental; Follow-Up Studies; Humans; Male; Maxilla; Molar; Odontodysplasia; Tooth, Unerupted
PubMed: 32151309
DOI: No ID Found -
Biomolecules Aug 2021Melanoma differentiation-associated protein 5 (MDA5) is a crucial RIG-I-like receptor RNA helicase enzyme encoded by in humans. Single nucleotide polymorphisms in the...
Melanoma differentiation-associated protein 5 (MDA5) is a crucial RIG-I-like receptor RNA helicase enzyme encoded by in humans. Single nucleotide polymorphisms in the results in fatal genetic disorders such as Aicardi-Goutières syndrome and Singleton-Merten syndrome, and in increased risk of type I diabetes in humans. In this study, we chose four different amino acid substitutions of the MDA5 protein responsible for genetic disorders: MDA5, MDA5, MDA5, and MDA5 and analyzed their structural and functional relationships using molecular dynamic simulations. Our results suggest that the mutated complexes are relatively more stable than the wild-type MDA5. The radius of gyration, interaction energies, and intra-hydrogen bond analysis indicated the stability of mutated complexes over the wild type, especially MDA5 and MDA5. The dominant motions exhibited by the wild-type and mutant complexes varied significantly. Moreover, the betweenness centrality of the wild-type and mutant complexes showed shared residues for intra-signal propagation. The observed results indicate that the mutations lead to a gain of function, as reported in previous studies, due to increased interaction energies and stability between RNA and MDA5 in mutated complexes. These findings are expected to deepen our understanding of MDA5 variants and may assist in the development of relevant therapeutics against the disorders.
Topics: Aortic Diseases; Autoimmune Diseases of the Nervous System; Computational Biology; Dental Enamel Hypoplasia; Humans; Hydrogen Bonding; Interferon-Induced Helicase, IFIH1; Metacarpus; Molecular Conformation; Molecular Dynamics Simulation; Muscular Diseases; Mutant Proteins; Mutation; Mutation, Missense; Nervous System Malformations; Odontodysplasia; Osteoporosis; Phenotype; Principal Component Analysis; RNA; Thermodynamics; Vascular Calcification
PubMed: 34439917
DOI: 10.3390/biom11081251