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European Journal of Paediatric Dentistry Sep 2020Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed...
BACKGROUND
Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed mainly based on dental (over-retention of primary teeth, dental agenesis and diastemas) and bone findings (bone sclerosis, irregular trabeculation of immature bone and reduced maxillary sinus). This paper provides a case report.
CASE REPORT
A 5-year-old child with skin manifestations including hypertrichosis, facial erythema and pigmented nevus was diagnosed with type II segmental odontomaxillary dysplasia based on clinical, radiographic and histopathological analysis.
CONCLUSION
The skin findings can help with the suspicion of segmental odontomaxillary dysplasia, although the definitive diagnosis is typically established by a paediatric dentist based on clinical and radiological findings.
Topics: Child, Preschool; Diastema; Humans; Maxilla; Odontodysplasia; Skin Diseases; Tooth, Deciduous
PubMed: 32893658
DOI: 10.23804/ejpd.2020.21.03.14 -
Journal of Veterinary Dentistry Jun 2021As part of an annual wellness evaluation, we performed oral and dental examination under general anesthesia in 7 zoo Bolivian squirrel monkeys aged 10 and 15 years, and...
As part of an annual wellness evaluation, we performed oral and dental examination under general anesthesia in 7 zoo Bolivian squirrel monkeys aged 10 and 15 years, and 8 zoo black-tufted marmosets aged between 1 and 7 years. No oral discomfort was observed in any animal prior to the procedure. Apart from dilacerated roots of second mandibular incisor teeth in Bolivian squirrel monkeys and one case of presumably odontodysplasia in a black-tufted marmoset, no major variations in number and shape of the present teeth and roots were revealed. All 15 animals had gingivitis, but periodontitis was only diagnosed in 3 black-tufted marmosets. Most commonly diagnosed dental pathology in Bolivian squirrel monkeys was attrition/abrasion, affecting 11.9% of all teeth, followed by caries, which was only diagnosed in older animals. Altogether 8 fractured teeth were diagnosed in Bolivian squirrel monkeys only, with root fracture being the most common type, followed by complicated crown fracture and complicated crown-root fracture. Radiographic signs of endodontic disease were found in 10 teeth in Bolivian squirrel monkeys and in one nonvital tooth with intact crown in a black-tufted marmoset. We associated high occurrence of caries in the older Bolivian squirrel monkeys with their diet and saliva characteristics of these animals. Lack of any periodontitis in Bolivian squirrel monkeys may partially be attributed to limitations of radiography technique, although squirrel monkeys appear to be far less susceptible to naturally occurring periodontitis than marmosets.
Topics: Animals; Callithrix; Saimiri
PubMed: 34821512
DOI: 10.1177/08987564211041781 -
Contemporary Clinical Dentistry 2022Regional odontodysplasia (RO), also called ghost teeth, is a rare nonhereditary developmental dental anomaly affecting the epidermal and mesenchymal tissues associated...
Regional odontodysplasia (RO), also called ghost teeth, is a rare nonhereditary developmental dental anomaly affecting the epidermal and mesenchymal tissues associated with the development of tooth which can affect both primary and permanent dentition. It can affect the child's overall quality of life and sometimes may lead to skeletal malocclusion. Management of such patients requires a multidisciplinary approach. Essix retainers are being widely used as retention appliances. Various modifications of this appliance are also being attempted. Thus, this article aims to focus on the use of Essix retainer as an interim prosthesis by modifying it with the incorporation of pontics to manage partial edentulousness and mild orthodontic corrections in a 7-year-old child diagnosed with bilateral RO.
PubMed: 36213853
DOI: 10.4103/ccd.ccd_434_21 -
Pediatric Rheumatology Online Journal Apr 2022Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor...
BACKGROUND
Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I interferon (IFN) signaling. In SGMRT1, IFIH1 mutations confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation.
CASE PRESENTATION
We report the case of a nine year old child who initially presented with a slowly progressive decline of gross motor skill development and muscular weakness. At the age of five years, he developed osteoporosis, acro-osteolysis, alveolar bone loss and severe psoriasis. Whole exome sequencing revealed a pathogenic de novo IFIH1 mutation, confirming the diagnosis of SGMRT1. Consistent with constitutive type I interferon activation, patient blood cells exhibited a strong IFN signature as shown by marked up-regulation of IFN-stimulated genes. The patient was started on the Janus kinase (JAK) inhibitor, ruxolitinib, which inhibits signaling at the IFN-α/β receptor. Within days of treatment, psoriatic skin lesions resolved completely and the IFN signature normalized. Therapeutic efficacy was sustained and over the course muscular weakness, osteopenia and growth also improved.
CONCLUSIONS
JAK inhibition represents a valuable therapeutic option for patients with SGMRT1. Our findings also highlight the potential of a patient-tailored therapeutic approach based on pathogenetic insight.
Topics: Aortic Diseases; Child; Child, Preschool; Dental Enamel Hypoplasia; Humans; Interferon Type I; Interferon-Induced Helicase, IFIH1; Male; Metacarpus; Muscle Weakness; Muscular Diseases; Nitriles; Odontodysplasia; Osteoporosis; Pyrazoles; Pyrimidines; Vascular Calcification
PubMed: 35410415
DOI: 10.1186/s12969-022-00686-7 -
Zhonghua Kou Qiang Yi Xue Za Zhi =... Jul 2020
Topics: Humans; Odontodysplasia
PubMed: 32634890
DOI: 10.3760/cma.j.cn112144-20190910-00341 -
Journal of Dentistry For Children... Nov 2023Segmental odontomaxillary dysplasia (SOD) is an uncommon and likely underrecognized developmental condition. In rare cases, SOD can also result in anomalies of the...
Segmental odontomaxillary dysplasia (SOD) is an uncommon and likely underrecognized developmental condition. In rare cases, SOD can also result in anomalies of the ipsilateral mandibular alveolar process and teeth. This report presents two cases of SOD with mandibular involvement to highlight this potential variation in SOD presentation. These cases help shed new light on our understanding of the disease mechanism and pathoetiology, while also informing clinicians to be diligent in imaging the ipsilateral mandible for dental anomalies in their patients with SOD. Based on the involvement of both jaws, the name change to 'segmental ipsilateral odontognathic dysplasia' is justified to better reflect its pathophysiology.
Topics: Humans; Bone Diseases, Developmental; Malocclusion; Mandible; Maxilla; Odontodysplasia; Tooth Abnormalities
PubMed: 38123928
DOI: No ID Found -
American Journal of Medical Genetics.... Jan 2022Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of...
Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutières (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic IFIH1 variant who presented with clinical features of S-M syndrome and A-G syndrome.
Topics: Aortic Diseases; Autoimmune Diseases of the Nervous System; Dental Enamel Hypoplasia; Humans; Interferon-Induced Helicase, IFIH1; Interferons; Japan; Male; Metacarpus; Muscular Diseases; Nervous System Malformations; Odontodysplasia; Osteoporosis; Vascular Calcification
PubMed: 34453469
DOI: 10.1002/ajmg.a.62478 -
The British Journal of Dermatology Dec 2020
Topics: Humans; Odontodysplasia
PubMed: 32585735
DOI: 10.1111/bjd.19339 -
FASEB Journal : Official Publication of... May 2024Singleton-Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal...
Singleton-Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal abnormalities, and psoriasis. Glaucoma, a key feature of both classical and atypical SMS, remains poorly understood in terms of its molecular mechanism caused by DDX58 mutation. This study presented a novel DDX58 variant (c.1649A>C [p.Asp550Ala]) in a family with childhood glaucoma. Functional analysis showed that DDX58 variant caused an increase in IFN-stimulated gene expression and high IFN-β-based type-I IFN. As the trabecular meshwork (TM) is responsible for controlling intraocular pressure (IOP), we examine the effect of IFN-β on TM cells. Our study is the first to demonstrate that IFN-β significantly reduced TM cell viability and function by activating autophagy. In addition, anterior chamber injection of IFN-β remarkably increased IOP level in mice, which can be attenuated by treatments with autophagy inhibitor chloroquine. To uncover the specific mechanism underlying IFN-β-induced autophagy in TM cells, we performed microarray analysis in IFN-β-treated and DDX58 p.Asp550Ala TM cells. It showed that RSAD2 is necessary for IFN-β-induced autophagy. Knockdown of RSAD2 by siRNA significantly decreased autophagy flux induced by IFN-β. Our findings suggest that DDX58 mutation leads to the overproduction of IFN-β, which elevates IOP by modulating autophagy through RSAD2 in TM cells.
Topics: Autophagy; Trabecular Meshwork; Humans; Animals; Mice; Intraocular Pressure; Interferon-beta; Male; Female; Glaucoma; Hearing Loss, Sensorineural; DEAD Box Protein 58; Mice, Inbred C57BL; Mutation; Optic Atrophy; Pedigree; Odontodysplasia; Vascular Calcification; Dental Enamel Hypoplasia; Metacarpus; Osteoporosis; Muscular Diseases; Aortic Diseases; Receptors, Immunologic
PubMed: 38752537
DOI: 10.1096/fj.202302265RR -
Journal of Medical Microbiology Feb 2024We have examined four burials from the St Mary Magdalen mediaeval cemetery in Winchester, Hampshire, UK. One (Sk.8) was a male child, two (Sk.45 and Sk.52) were...
We have examined four burials from the St Mary Magdalen mediaeval cemetery in Winchester, Hampshire, UK. One (Sk.8) was a male child, two (Sk.45 and Sk.52) were adolescent females and the fourth (Sk.512) was an adult male. The cemetery was in use between the 10th and 12th centuries. All showed skeletal lesions of leprosy. Additionally, one of the two females (Sk.45) had lesions suggestive of multi-cystic tuberculosis and the second (Sk.52) of leprogenic odontodysplasia (LO), a rare malformation of the roots of the permanent maxillary incisors. Relatively little is known of the manifestations of lepromatous leprosy (LL) in younger individuals from the archaeological record. To address this, we have used ancient DNA testing and osteological examination of the individuals, supplemented with X-ray and microcomputed tomography (micro-CT) scan as necessary to assess the disease status. The presence of DNA was confirmed in both females, and genotyping showed SNP type 3I-1 strains but with a clear genotypic variation. We could not confirm complex DNA in the female individual SK.45. High levels of DNA were found within the pulp cavities of four maxillary teeth from the male child (Sk.8) with LO, consistent with the theory that the replication of in alveolar bone may interfere with root formation at key stages of development. We report our biomolecular findings in these individuals and review the evidence this site has contributed to our knowledge of mediaeval leprosy.
Topics: Adult; Child; Humans; Male; Female; Adolescent; X-Ray Microtomography; Leprosy; Mycobacterium leprae; DNA, Bacterial; Leprosy, Multibacillary; United Kingdom
PubMed: 38362924
DOI: 10.1099/jmm.0.001806