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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 -
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 -
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 -
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 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 -
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 -
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 -
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 -
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