-
Case Reports in Dentistry 2016Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A...
Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A five-year-old female was referred to Department of Child Dental Health at the Leeds Dental Institute regarding malformed primary teeth. On examination 64, 74, and 72 had localised hypomineralized enamel defect. The crown of 55 was broken down with only the root remaining below the gingival level. 54 has a yellowish brown discolouration with rough irregular surface. The upper anterior teeth show mild enamel opacity. Radiographically, 55 and 54 had thin radioopaque contour, showing poor distinction between the enamel and dentine and the classic feature of a wide pulp chamber. 15, 16, and 17 were developmentally delayed and were displaying the characteristic "ghost appearance." Comprehensive dental care was done under local anaesthesia and it included extraction of the primary molars affected by ROD, stainless steel crown on 64, and caries prevention program. Fifteen months following the initial assessment the patient's oral condition remains stable and she is under regular follow-up at the department. Paediatric dentists should be aware of this anomaly as it involves both dentitions and usually requires multidisciplinary care.
PubMed: 28097027
DOI: 10.1155/2016/4574673 -
Veterinary Pathology Jul 2018Molar apical elongation (MAE) was the leading cause for euthanasia or death in a captive breeding colony of endangered Amargosa voles ( Microtus californicus...
Molar apical elongation (MAE) was the leading cause for euthanasia or death in a captive breeding colony of endangered Amargosa voles ( Microtus californicus scirpensis). Clinical signs included ocular discharge, abnormal mastication, dyspnea, abnormal mentation, weight loss, and death. Although the severity varied, all molars in all quadrants were affected. When severe, the overgrown molar reserve crown and apex protruded into the nasal meatuses, the orbit, the calvarial vault and through the ventral margin of the mandible. Overall prevalence in the colony was 63% (92/146 voles) and increased to 77% in aged voles (>1 year). Mean age of onset was 5.3 months (1.7-11.2 months). Progression to extreme severity occurred over 1 to 3 months. Mean survival was 10.9 months (7.1-21.7 months). Histologically, the lesion was characterized by odontogenic hyperplasia and dysplasia. MAE was also documented in museum specimens of 2 other M. californicus subspecies ( M. californicus californicus, M. californicus vallicola) and 3 other Microtus species ( M. montanus, M. pennsylvanicus, M. socialis). In the M. californicus californicus collection, overall prevalence was 35.1% (129/368 skulls) and increased to 77.3% in aged voles (>1 year). A probable genetic influence was identified in the museum collection of M. californicus californicus. The etiopathogenesis of MAE is likely multifactorial, due to (1) inherent continuous odontogenic proliferation, (2) inadequate occlusal attrition, and (3) possible heritable disease susceptibility. In captivity, dietary or other management of occlusal attrition to prevent or delay MAE is a fundamental concern.
Topics: Animals; Arvicolinae; Breeding; Female; Male; Molar; Odontodysplasia; Rodent Diseases; X-Ray Microtomography
PubMed: 29665753
DOI: 10.1177/0300985818758469 -
American Journal of Human Genetics Feb 2015Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption.
Topics: Amino Acid Sequence; Aortic Diseases; Arteries; Base Sequence; Calcinosis; DEAD-box RNA Helicases; Dental Enamel Hypoplasia; Exome; Genes, Dominant; Humans; Immunohistochemistry; Interferon-Induced Helicase, IFIH1; Interferon-beta; Metacarpus; Models, Molecular; Molecular Sequence Data; Muscular Diseases; Mutation, Missense; Odontodysplasia; Osteoporosis; Pedigree; Phenotype; Sequence Analysis, DNA; Tooth Abnormalities; Vascular Calcification
PubMed: 25620204
DOI: 10.1016/j.ajhg.2014.12.014 -
The Journal of Clinical Pediatric... May 2024PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye...
PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities and Sternal malformations. Infantile hemangiomas are the most common tumors of infancy. Regional odontodysplasia, commonly referred to as "ghost teeth", is a rare localized developmental malformation of enamel and dentin with varying levels of severity that results in unusual clinical and radiographic appearances of affected teeth. This report describes a rare case of a two-year-old Caucasian male diagnosed with PHACES syndrome also presenting with multi-regional odontodysplasia. Ten of twenty teeth were dysplastic. The patient was treated under general anesthesia in a hospital setting. All affected primary teeth were extracted due to sensitivity, abscess and extremely poor long-term prognosis. Moving forward, a long-term interdisciplinary approach will be necessary to address this child's dentition as it develops.
Topics: Humans; Male; Aortic Coarctation; Odontodysplasia; Eye Abnormalities; Child, Preschool; Neurocutaneous Syndromes; Cranial Fossa, Posterior; Tooth Extraction
PubMed: 38755995
DOI: 10.22514/jocpd.2024.070 -
Archives de Pediatrie : Organe Officiel... Oct 2018To investigate the prevalence and gender distributions of dental anomalies in French orthodontic patients.
OBJECTIVES
To investigate the prevalence and gender distributions of dental anomalies in French orthodontic patients.
MATERIAL AND METHODS
A retrospective review of the dental files of orthodontic patients was conducted to investigate the frequencies of dental anomalies. Pretreatment intraoral photographs and panoramic radiographs were analyzed. The occurrence rates of various dental anomalies (as determined by the numbers, shapes, structures, exfoliations, and eruptions of teeth) were calculated as percentages and differences in gender distribution using Chi and Fisher tests.
RESULTS
Five hundred fifty-one patients receiving orthodontic treatment between 2003 and 2013 at a French hospital were included in the study: 45.74% of the patients (n=252) presented at least one dental anomaly. Taurodontism was the most common (15.06%), followed by ectopic eruption (11.43%). Odontoma, macrodontia, fusion, gemination, talon cusp, dentinogenesis imperfecta, regional odontodysplasia, premature tooth eruption, and premature exfoliation were not found. No statistically significant correlations were found between gender and the occurrence of dental anomalies.
CONCLUSION
French orthodontic patients exhibit a high rate of dental anomalies, indicating that dental anomalies should be carefully considered in the orodental management of French patients.
Topics: Adolescent; Child; Female; France; Humans; Male; Orthodontics; Prevalence; Retrospective Studies; Tooth Abnormalities
PubMed: 30249487
DOI: 10.1016/j.arcped.2018.07.002 -
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