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Journal of Applied Oral Science :... Dec 2007Regional odontodysplasia (RO) is a rare developmental anomaly involving both mesodermal and ectodermal dental components in a group of contiguous teeth. It affects the...
Regional odontodysplasia (RO) is a rare developmental anomaly involving both mesodermal and ectodermal dental components in a group of contiguous teeth. It affects the primary and permanent dentitions in the maxilla and mandible or both jaws. Generally it is localized in only one arch. The etiology of this dental anomaly is uncertain. Clinically, affected teeth have an abnormal morphology, are soft on probing and typically discolored, yellow or yellowish-brown. Radiographically, the affected teeth show a "ghostlike" appearance. This paper reports the case of a 5-year-old girl presenting this rare anomaly on the left side of the maxillary arch, which crossed the midline. The primary maxillary left teeth (except for the canine) and the primary maxillary right central incisor were missing due to previous extractions. The permanent teeth had a "ghostlike" appearance radiographically. The treatment performed was rehabilitation with temporary partial acrylic denture and periodic controls. In the future, the extraction of affected permanent teeth and rehabilitation with dental implants will be evaluated. The presentation of this case adds valuable information to pediatric dentists to review special clinical and radiographic features of RO, which will facilitate the diagnosis and treatment of patients with this condition.
PubMed: 19089181
DOI: 10.1590/s1678-77572007000600002 -
Nucleic Acids Research Jun 2022DDX58 encodes RIG-I, a cytosolic RNA sensor that ensures immune surveillance of nonself RNAs. Individuals with RIG-IE510V and RIG-IQ517H mutations have increased...
DDX58 encodes RIG-I, a cytosolic RNA sensor that ensures immune surveillance of nonself RNAs. Individuals with RIG-IE510V and RIG-IQ517H mutations have increased susceptibility to Singleton-Merten syndrome (SMS) defects, resulting in tissue-specific (mild) and classic (severe) phenotypes. The coupling between RNA recognition and conformational changes is central to RIG-I RNA proofreading, but the molecular determinants leading to dissociated disease phenotypes remain unknown. Herein, we employed hydrogen/deuterium exchange mass spectrometry (HDX-MS) and single molecule magnetic tweezers (MT) to precisely examine how subtle conformational changes in the helicase insertion domain (HEL2i) promote impaired ATPase and erroneous RNA proofreading activities. We showed that the mutations cause a loosened latch-gate engagement in apo RIG-I, which in turn gradually dampens its self RNA (Cap2 moiety:m7G cap and N1-2-2'-O-methylation RNA) proofreading ability, leading to increased immunopathy. These results reveal HEL2i as a unique checkpoint directing two specialized functions, i.e. stabilizing the CARD2-HEL2i interface and gating the helicase from incoming self RNAs; thus, these findings add new insights into the role of HEL2i in the control of antiviral innate immunity and autoimmunity diseases.
Topics: Autoimmune Diseases; DEAD Box Protein 58; DEAD-box RNA Helicases; Humans; Immunity, Innate; Metacarpus; Odontodysplasia; RNA
PubMed: 35580046
DOI: 10.1093/nar/gkac361 -
The Journal of Clinical Pediatric... Nov 2023Regional odontodysplasia (RO) is a rare non-hereditary dental anomaly associated with dysplasia. Its etiology remains unclear but is known to affect both the mesodermal...
Regional odontodysplasia (RO) is a rare non-hereditary dental anomaly associated with dysplasia. Its etiology remains unclear but is known to affect both the mesodermal and ectodermal dental components, as well as deciduous and permanent dentitions. Its young age of onset and complexity has great physical and psychological impact on the affected patients. However, the clinical management of RO remains unified without standardized treatment guidelines. Thus, this study aimed to report an RO case, the first from Jiangxi Province, China, and discuss its clinical diagnosis and treatment to provide a reference to treat similar cases more effectively in the future.
Topics: Humans; Odontodysplasia; Dentition, Permanent
PubMed: 37997252
DOI: 10.22514/jocpd.2023.094 -
Case Reports in Dentistry 2014Regional odontodysplasia is a rare, severe, and nonhereditary developmental disorder in tooth formation and involves epithelial and mesenchymal-derived dental tissue. On...
Regional odontodysplasia is a rare, severe, and nonhereditary developmental disorder in tooth formation and involves epithelial and mesenchymal-derived dental tissue. On radiographs, affected teeth have an abnormal morphology, a hypoplastic crown, and only a faint outline of hard tissue, a condition termed "ghost teeth." We report clinical and radiographic findings from two children with regional odontodysplasia. Using computed tomography (CT), we calculated attenuation coefficients (i.e., Hounsfield units) for affected teeth and assessed the condition of dental follicles. To measure density, regions of interest were delimited and CT values were calculated. In our two patients, the CT values for enamel were lower in affected teeth than in sound teeth, while CT values for dentin were similar for affected and sound teeth. The average CT value for dental follicles in affected teeth was about 65 to 120, which suggests that dense fibrous connective tissues or hard tissue-like structures might be present in dental follicles. Analysis of CT values may be quite useful in the diagnosis and treatment of regional odontodysplasia.
PubMed: 25250179
DOI: 10.1155/2014/764393 -
Journal of Interferon & Cytokine... May 2017In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened... (Review)
Review
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1. More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutières syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS). IFIH1 encodes for melanoma differentiation-associated gene 5 (MDA5), and all mutations identified to date have been associated with an enhanced interferon response in affected individuals. In this study, we present a male child demonstrating recurrent febrile episodes, spasticity, and basal ganglia calcification suggestive of Aicardi-Goutières syndrome, who carries the same Arg822Gln mutation in IFIH1 previously associated with SMS. We conclude that both diseases are part of the interferonopathy grouping and that the Arg822Gln mutation in IFIH1 can cause a spectrum of disease, including neurological involvement.
Topics: Aortic Diseases; Child; Dental Enamel Hypoplasia; Humans; Inflammation; Interferon Type I; Interferon-Induced Helicase, IFIH1; Male; Metacarpus; Muscular Diseases; Mutation; Odontodysplasia; Osteoporosis; Vascular Calcification
PubMed: 28475458
DOI: 10.1089/jir.2017.0004 -
Medicina Oral : Organo Oficial de La... 2004
Topics: Child; Humans; Male; Maxilla; Odontodysplasia
PubMed: 14990887
DOI: No ID Found -
Case Reports in Dentistry 2013Background. Odontodysplasia is an uncommon condition. It can be localised or generalised, isolated or part of a syndrome. Case Report. We first report the case of an...
Background. Odontodysplasia is an uncommon condition. It can be localised or generalised, isolated or part of a syndrome. Case Report. We first report the case of an 8.5-year-old boy who presented with abnormally shaped teeth and multiple intraoral abscesses. Findings of clinical and radiographic examinations were consistent with those of generalised odontodysplasia. A 2-step, conservative treatment plan was executed with a 10-year followup. Step 1 was root canal treatment of nonvital teeth. Step 2 was crowning without preparation of new vital, erupted, and malformed teeth. The second case is that of a 12-year-old girl who presented with lack of teeth in the upper-left quadrant. The impacted teeth were exposed surgically, and fixed restoration was performed for temporary aesthetic improvement. Conclusion. Instead of tooth extraction, an approach previously used in similar cases, conservative management is feasible and offers better prosthetic treatment options for the future.
PubMed: 23476815
DOI: 10.1155/2013/519704 -
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 -
International Journal of Clinical... 2023A rare dental developmental anomaly known as regional odontodysplasia (RO) manifests itself in hypoplastic and hypomineralized teeth with discolored yellow to brown...
UNLABELLED
A rare dental developmental anomaly known as regional odontodysplasia (RO) manifests itself in hypoplastic and hypomineralized teeth with discolored yellow to brown enamel. Radiographically, the affected tooth appears as a shell tooth with a large pulp chamber and a thin layer of teeth structure. The treatment plan is not well-established, and a multidisciplinary approach is often needed. However, a literature review revealed that most of the studies regarding RO are case reports, and more research, including epidemiological, genetic, and experimental studies, is needed to understand this condition better. Additionally, the cause of this anomaly is currently unknown. Removing the affected tooth is a controversial matter, and the treatment options should be chosen on an individual basis, considering the patient's goals for treatment. This report describes an uncommon case of an 8-year-old girl who has RO affecting the front teeth in the upper jaw and a long-standing infection caused by actinomycosis.
HOW TO CITE THIS ARTICLE
Helal N. Regional Odontodysplasia with Actinomycosis Infection: A Rare Case Report. Int J Clin Pediatr Dent 2023;16(1):190-197.
PubMed: 37020769
DOI: 10.5005/jp-journals-10005-2504 -
Journal of Dentistry (Shiraz, Iran) Dec 2013Regional odontodysplasia is a rare dental anomaly affecting both primary and adult dentitions in the maxilla or mandible or both jaws, whilst involvement of the maxilla...
Regional odontodysplasia is a rare dental anomaly affecting both primary and adult dentitions in the maxilla or mandible or both jaws, whilst involvement of the maxilla is more common [1-2]. In most cases, one quadrant is affected. One of the characteristics of this anomaly is discolored and soft teeth that can be accompanied by swelling or abscess. In this anomaly, enamel and dentin are thin and hypoplastic, therefore, the teeth give the impression of "ghost teeth" [2, 8]. In radiography, the delineation between enamel and dentin is not clear and pulp chamber is wide. Histologically, areas of hypocalcified enamel are observed and the enamel prisms appear to be irregular in direction [2]. There is a disturbance in dentin formation and dentinal tubules are reduced in number. The etiology of regional odontodysplasia is still unknown [8]. Managements of these cases should be based on the esthetics and functional needs as well as the degree of involvement. This report describes a case of regional odontodysplasia in a 3.5 year old Iranian girl whose chief complaint was the abscess formation in the left maxillary primary molar region. This case study aims to report the clinical and radiological findings of the current case.
PubMed: 24724145
DOI: No ID Found