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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 -
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 -
Zhonghua Kou Qiang Yi Xue Za Zhi =... May 2024Regional odontodysplasia (ROD) is a rare localized dental developmental anomaly. The typical clinical manifestations of ROD are abnormal tooth eruption, abnormal... (Review)
Review
Regional odontodysplasia (ROD) is a rare localized dental developmental anomaly. The typical clinical manifestations of ROD are abnormal tooth eruption, abnormal development of enamel and dentin. The radiographic characteristic is "ghost teeth". Its etiology still remains unknown. The care and treatment of a patient with ROD needs a multidisciplinary approach. And the treatment should be taken after the assessment of each individual case of ROD. This paper reviews the definition, etiology, epidemiological features, clinical manifestations, imaging features, dental microstructure and treatment strategies of ROD to provide reference for clinical diagnosis and treatment.
Topics: Humans; Odontodysplasia; Dental Enamel; Dentin; Tooth Eruption
PubMed: 38637007
DOI: 10.3760/cma.j.cn112144-20240129-00043 -
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 -
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 -
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 -
Journal of Developmental Biology Jan 2024Hyperplastic dental follicles (HDFs) represent odontogenic hamartomatous lesions originating from the pericoronal tissues and are often associated with impacted or...
Hyperplastic dental follicles (HDFs) represent odontogenic hamartomatous lesions originating from the pericoronal tissues and are often associated with impacted or embedded teeth. These lesions may occasionally feature unique calcifying bodies, known as calcifying whorled nodules (CWNs), characterized by stromal cells arranged in a whorled or spiral fashion. CWNs are typically observed in multiple calcifying hyperplastic dental follicles or regional odontodysplasia. In our study, we examined 40 cases of HDFs, including nine instances with characteristics of CWNs, referred to as calcifying hyperplastic dental follicles (CHDFs), which are infrequently accompanied by odontodysplasia. The median ages of the HDFs and CHDFs were 16 (ranging from 3 to 66) and 15 (ranging from 11 to 50) years, respectively. The lower third molars were the most frequently affected by HDSFs and CHDFs, followed by the upper canines. A histological examination was conducted on all 40 cases, with an immunohistochemical analysis performed on 21 of them. Among the cases with CWN, nine affected a single embedded tooth, with one exception. CWNs exhibited diverse calcifications featuring sparse or entirely deposited psammoma bodies, and some displayed dentinoid formation. Immunohistochemically, the stromal cells of HDFs were frequently positive for CD56 and nestin. By contrast, CWNs were negative for CD56 but positive for nestin as well as hairy and enhancer split 1 (HES1), with a few dentin sialoprotein (DSP)-positive calcified bodies. Our results revealed that hamartomatous CHDFs can impact multiple and single-embedded teeth. CWNs composed of nestin and HES1-positive ectomesenchymal cells demonstrated the potential to differentiate into odontoblasts and contribute to dentin matrix formation under the influence of HES1. This study is the first report documenting odontoblastic differentiation in HDFs. The rare occurrence of HDFs and CHDFs contributes to limited comprehension. To prevent misdiagnosis, a better understanding of these conditions is necessary.
PubMed: 38390958
DOI: 10.3390/jdb12010007 -
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 -
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 -
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