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Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... Feb 2024Regional odontodysplasia (ROD) is a localized developmental anomaly involving deciduous and permanent dentition, with a significant impact on patients. The affected... (Review)
Review
Regional odontodysplasia (ROD) is a localized developmental anomaly involving deciduous and permanent dentition, with a significant impact on patients. The affected teeth display unique ghost-like radiological characteristics, clinically manifesting as delayed tooth eruption, abnormal tooth morphology, and recurrent swelling of gingiva. In this paper, we report a case of a 2-year-old patient with ROD whose chief complaint was facial cellulitis. We analyze the medical history, clinical examination, radiographic findings, and histologic findings, and review the pathological features, pathogenesis, multidisciplinary diagnosis, and treatment of ROD. This rare case, which offers clinical samples for its further study, can provide a deeper study of ROD.
Topics: Humans; Child, Preschool; Odontodysplasia; Cellulitis; Face; Dentition, Permanent; Radiography
PubMed: 38475960
DOI: 10.7518/hxkq.2024.2023247 -
World Journal of Pediatrics : WJP Feb 2020Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the... (Review)
Review
BACKGROUNDS
Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse. This review briefly summarized the recent progresses of type I interferonopathy focusing on the clinical and molecular features, pathogeneses, diagnoses and potential therapies.
DATA SOURCES
Original research articles and literature reviews published in PubMed-indexed journals.
RESULTS
Type I interferonopathies include Aicardi-Goutières syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specific peptidase 18 deficiency, chronic atypical neutrophilic dermatitis with lipodystrophy, and Singleton-Merten syndrome originally. Other disorders including interferon-stimulated gene 15 deficiency and DNAse II deficiency are believed to be interferonopathies as well. Intracranial calcification, skin vasculopathy, interstitial lung disease, failure to thrive, skeletal development problems and autoimmune features are common. Abnormal responses to nucleic acid stimuli and defective regulation of protein degradation are main mechanisms in disease pathogenesis. First generation Janus kinase inhibitors including baricitinib, tofacitinib and ruxolitinib are useful for disease control. Reverse transcriptase inhibitors seem to be another option for Aicardi-Goutières syndrome.
CONCLUSIONS
Tremendous progress has been made for the discovery of type I interferonopathies and responsible genes. Janus kinase inhibitors and other agents have potential therapeutic roles. Future basic, translational and clinical studies towards disease monitoring and powerful therapies are warranted.
Topics: Aortic Diseases; Autoimmune Diseases; Autoimmune Diseases of the Nervous System; Child; Dental Enamel Hypoplasia; Humans; Immunosuppressive Agents; Interferon Type I; Metacarpus; Muscular Diseases; Nervous System Malformations; Odontodysplasia; Osteoporosis; Phenotype; Protein Kinase Inhibitors; Reverse Transcriptase Inhibitors; Vascular Calcification
PubMed: 31377974
DOI: 10.1007/s12519-019-00273-z -
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 -
Oral Health & Preventive Dentistry Sep 2020Regional odontodysplasia (RO) is a rare dental anomaly affecting primary and/or permanent dentition, and leads to comprehensive treatment need. The purpose of this study... (Review)
Review
PURPOSE
Regional odontodysplasia (RO) is a rare dental anomaly affecting primary and/or permanent dentition, and leads to comprehensive treatment need. The purpose of this study was to present a larger consecutive sample with RO, discuss treatment strategies for patients with RO, and review the literature.
MATERIALS AND METHODS
A consecutive, retrospective sample of seven children with RO (6 males, 1 female) including all patients diagnosed with RO in the eastern part of Denmark was conducted over a period of 15 years. The evaluation included gender, localisation and treatment outcome. A review of the literature and cases published within the last 15 years was conducted.
RESULT
Referral age was 2-12 years (mean: 7.3 years). The gender ratio was 1:6 (female:male), and the right:left ratio was 3:4. 71% of the patients had RO in the mandible and 29% in the maxilla. 43% had RO in the permanent dentition, while both primary and permanent dentition were affected in 57%. Typically, RO affected incisors and canines. In some patients, RO also affected more distal tooth types. Treatment included early multiple extractions and subsequent combined orthodontics, surgery and prosthetics. A search on RO cases published within the last 15 years was conducted and included 44 cases. The review showed a male and maxillary preponderance. The most common treatment of RO is extraction.
CONCLUSION
Treatment of RO should take place in interdisciplinary, specialised teams, and individual treatment plans should be designed. Fewer but more extensive treatment sessions under general anesthaesia may minimise the burden of care for the patients.
Topics: Child; Dentition, Permanent; Female; Humans; Incisor; Male; Mandible; Odontodysplasia; Retrospective Studies
PubMed: 32895649
DOI: 10.3290/j.ohpd.a45070 -
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 -
Clinical Oral Investigations Nov 2019Tooth agenesis is one of the most common craniofacial developmental anomalies. In hypodontia, one to five teeth are missing, whereas oligodontia refers to the absence of...
OBJECTIVE
Tooth agenesis is one of the most common craniofacial developmental anomalies. In hypodontia, one to five teeth are missing, whereas oligodontia refers to the absence of at least six teeth, excluding the third molars. Mutations in several genes including MSX1, PAX9, AXIN2, and WNT10A have been shown to cause non-syndromic tooth agenesis. Regional odontodysplasia (RO), also known as "ghost teeth," is a rare developmental anomaly of tooth formation affecting both dentitions. Some possible causes of RO have been suggested, yet the etiology remains unknown. Because the phenotypes of both oligodontia and RO co-occur in one Finnish family, the aim here was to investigate the genetic etiology of the two conditions.
MATERIALS AND METHODS
A mutation screening of the genes MSX1, PAX9, AXIN2, and WNT10A was performed for the family members of a RO patient and family history of oligodontia.
RESULTS
An initiation codon mutation of the PAX9 gene was found in the proband and segregating with oligodontia in the family.
CONCLUSIONS
The etiology of regional odontodysplasia (RO) may be genetic and the same genes can be involved both in RO and tooth agenesis.
CLINICAL RELEVANCE
Our results give new insights into the etiology of regional odontodysplasia, yet further results are needed.
Topics: Anodontia; Codon, Initiator; Humans; MSX1 Transcription Factor; Mutation; Odontodysplasia; PAX9 Transcription Factor; Pedigree
PubMed: 30809714
DOI: 10.1007/s00784-019-02849-5 -
American Journal of Medical Genetics.... Oct 2021Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral...
Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38-year-old male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3-guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5-knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle-sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN. A six-month post-operative follow-up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well-established joint-preserving techniques demonstrate a favorable improvement of the patient's clinical condition.
Topics: Adult; Antigens, CD; Antigens, Differentiation, Myelomonocytic; Aortic Diseases; CD56 Antigen; Dental Enamel Hypoplasia; Femur Head; Femur Head Necrosis; Humans; Interferons; Male; Metacarpus; Muscular Diseases; Odontodysplasia; Osteoporosis; Receptors, Cell Surface; Skin Abnormalities; Treatment Outcome; Vascular Calcification
PubMed: 34189824
DOI: 10.1002/ajmg.a.62395 -
Special Care in Dentistry : Official... May 2019to investigate for the first time whether the regenerative approach can be used to rehabilitate a case with regional odontodysplasia (ROD). ROD is a rare, localized... (Review)
Review
AIM
to investigate for the first time whether the regenerative approach can be used to rehabilitate a case with regional odontodysplasia (ROD). ROD is a rare, localized developmental anomaly of the dental tissues. Moreover, we review the various treatment protocols for ROD and compare them to the suggested regenerative protocol.
CASE REPORT
A 22-year-old female patient diagnosed with ROD in the upper left quadrant was presented to our clinic. Initially, the affected teeth were extracted and three implants were inserted. A combination of autologous bone marrow mononuclear cells (BMMNCs) seeded on a collagen sponge, nanohydroxyapatite, and autologous platelet-rich fibrin (PRF) was used to enhance bone regeneration in the defective area and around the inserted implants. After 9 months, bone regeneration and successful osteointegration around the inserted implants were achieved, permitting the insertion of a fourth implant. After an additional six months, a final fixed restoration was constructed.
CONCLUSION
The suggested regenerative approach provides a better treatment option for ROD patients to regenerate the lost bone, rehabilitate aesthetics, and restore normal function.
Topics: Adult; Bone Regeneration; Female; Humans; Odontodysplasia; Platelet-Rich Fibrin; Young Adult
PubMed: 30989685
DOI: 10.1111/scd.12378 -
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 -
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