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Journal of the American College of... Nov 2010
Topics: Adolescent; Aortic Diseases; Bone Diseases; Calcinosis; Dental Enamel Hypoplasia; Diagnosis, Differential; Echocardiography, Three-Dimensional; Female; Heart Valve Prosthesis Implantation; Humans; Metacarpus; Muscular Diseases; Odontodysplasia; Osteoporosis; Stroke Volume; Tomography, X-Ray Computed; Vascular Calcification; Ventricular Dysfunction, Left; Video Recording
PubMed: 21070929
DOI: 10.1016/j.jacc.2010.02.078 -
Head and Neck Pathology Mar 2021Segmental odontomaxillary dysplasia (SOD) is a developmental condition of the middle and posterior maxilla featuring dysplastic bone overgrowth, dental abnormalities...
Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue.
Segmental odontomaxillary dysplasia (SOD) is a developmental condition of the middle and posterior maxilla featuring dysplastic bone overgrowth, dental abnormalities and, occasionally, various homolateral cutaneous manifestations. Herein, we describe an individual with maxillary abnormality akin to SOD and associated ipsilateral segmental odontomandibular dysplasia. Also, the result of the evaluation of lesional mandibular gingival tissue for overgrowth-related gene variants is reported. An 8-year-old girl presented clinically with congenital maxillary and mandibular alveolar soft tissue enlargement in the area of the premolars. A panoramic radiograph revealed abnormal trabeculation essentially similar to SOD in the maxilla and mandible with congenitally missing maxillary and mandibular first and second premolars and mandibular canines. Diagnostic mandibular bone biopsy was performed and lesional mandibular gingival hyperplastic tissue was obtained for variant analysis of somatic overgrowth genes PIK3CA, AKT1, AKT3, GNAQ, GNA11, MTOR, PIK3R2. Cone beam computerized tomography (CBCT) disclosed osseous abnormalities on the left side of the maxilla and mandible and very mild osseous expansion in the mandible. Histologically, abnormal bone exhibiting prominent reversal lines was present and associated with fibrocollagenous tissue. Genomic DNA analysis disclosed PIK3CAc.1571G>A; pArg524Lys which was seen at a low mosaic level in the blood, indicating a post-zygotic change. Although this case may be a unique disorder, by sharing features with SOD, one can suggest the possibility of mandibular involvement in SOD. The presence of a PIK3CA variant may support the hypothesis that these segmental disorders could be part of the PIK3CA-related overgrowth spectrum.
Topics: Child; Class I Phosphatidylinositol 3-Kinases; Female; Gingival Hyperplasia; Humans; Mandible; Maxilla; Odontodysplasia
PubMed: 32500425
DOI: 10.1007/s12105-020-01185-5 -
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 -
International Journal of Clinical... 2011Regional odontodysplasia is a nonhereditary, uncommon developmental abnormality of teeth. Females have more predilections for regional odontodysplasia. The enamel,...
Regional odontodysplasia is a nonhereditary, uncommon developmental abnormality of teeth. Females have more predilections for regional odontodysplasia. The enamel, dentin and pulp of teeth are affected and radiographically, teeth are described as "ghost teeth". Many of these :eeth do not erupt and have an increased risk for caries and periapical inflammation. Since the literature on regional odontodysplasia is limited, here is need to discuss this anomaly to have a better approach for the diagnosis and treatment.
PubMed: 27672258
DOI: 10.5005/jp-journals-10005-1102 -
International Journal of Clinical... 2018Regional odontodysplasia (RO) is a rare nonhereditary developmental condition usually affecting maxilla and female patients. A few number of articles have used the cone...
UNLABELLED
Regional odontodysplasia (RO) is a rare nonhereditary developmental condition usually affecting maxilla and female patients. A few number of articles have used the cone beam computed tomography (CBCT) to describe imaging findings in RO. Thus, this article aims to report unusual imaging findings in a Brazilian child who presented with mandibular RO. A healthy 8-year-old boy was referred for evaluation of an anterior mandibular gingival enlargement. Radiographically, all right mandibular teeth showed wide pulp chambers and shortened roots with thin dentinal walls and open apices, featuring a "ghost teeth" appearance, which indicated a diagnosis of RO. Missing teeth and altered radiopacity were observed. Cone beam computed tomography provided great insight into RO, allowing to identify gubernaculum tracts (GTs) associated with RO teeth. Fractal analysis of the bone surrounding RO teeth revealed an altered trabecular pattern.
CLINICAL SIGNIFICANCE
This case describes a rare developmental teeth-related pathology in a boy who showed unusual features on imaging exams. The CBCT provided the observation of RO tooth-related GTs, probably a new finding added to the international literature regarding RO, as well as the pulp chamber volume characterization of an affected tooth not published yet. In addition, it was observed an altered fractal pattern of the mandibular bone adjacent to RO teeth, which has not been described to date. de Sa Cavalcante D, Fonteles CSR, Ribeiro TR, Kurita LM, Pimenta AVM, Carvalho FSR, Costa FWG. Mandibular Regional Odontodysplasia in an 8-year-old Boy showing Teeth Disorders, Gubernaculum Tracts, and Altered Bone Fractal Pattern. Int J Clin Pediatr Dent 2018;11(2):128-134.
PubMed: 29991866
DOI: 10.5005/jp-journals-10005-1498 -
European Journal of Dentistry Apr 2011This paper reports the case of 2 sisters with generalized familial crown resorptions, including co-occurrence of familial dental abnormalities of severe crown...
This paper reports the case of 2 sisters with generalized familial crown resorptions, including co-occurrence of familial dental abnormalities of severe crown resorption, failure of eruption, and congenitally missing teeth, which have not been described earlier in the literature.
PubMed: 21494390
DOI: No ID Found -
Journal of Oral and Maxillofacial... 2016Periapical infection in the primary tooth may lead to periapical abscess, granuloma, radicular cyst and even osteomyelitis. The infection in primary teeth can also...
Periapical infection in the primary tooth may lead to periapical abscess, granuloma, radicular cyst and even osteomyelitis. The infection in primary teeth can also affect the developing successor teeth leading to hypomineralization, hypoplasia, arrest of tooth development, regional odontodysplasia, delayed eruption etc. The purpose of this article is to report a case of malformed permanent tooth in relation to overlying infected deciduous teeth. The probable role of inflammation in pathogenesis of the present condition is also being discussed.
PubMed: 27194886
DOI: 10.4103/0973-029X.180986 -
The Journal of Clinical Pediatric... 2009Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder caused by mutations in the Connexin 43 gene (GJA1). Described here is a...
Oculodentodigital dysplasia is an extremely rare autosomal dominant pleiotropic disorder caused by mutations in the Connexin 43 gene (GJA1). Described here is a previously undiagnosed case of an 8-year-old boy with enamel and dentin hypoplasia and typical faces. In this presentation, many typical clinical and radiographical features of this condition are present. The characteristic features include a typical face, premature loss of primary teeth and odontodysplasia of permanent teeth, clinodactyly, ocular signs, and CNS involvement. To our knowledge, the case that we report here is the first case with mamelon-shaped tip of the tongue and enlarged midpalatal raphe.
Topics: Child; Chromosomes, Human, Pair 6; Connexin 43; Consanguinity; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Dentin Dysplasia; Eye Abnormalities; Fingers; Genes, Dominant; Humans; Male; Mutation; Odontodysplasia; Palate, Hard; Siblings; Syndactyly; Syndrome; Tongue; Tooth Abnormalities
PubMed: 19725242
DOI: 10.17796/jcpd.33.4.0r02810u1533h168 -
Journal of Oral Science Sep 2013Segmental odontomaxillary dysplasia (SOD) is a rare developmental disorder of the maxilla, and there is little information on its morphological features. Thus, the...
Segmental odontomaxillary dysplasia (SOD) is a rare developmental disorder of the maxilla, and there is little information on its morphological features. Thus, the present article describes a case of SOD focusing on its histopathological, immunohistochemical and scanning electron microscopic features. Several dental abnormalities were present, including numerous dentin and pulp defects, altered composition of hard tissue, and proliferation of myofibroblasts in the pulp and the soft tissue surrounding affected teeth. This myofibroblastic proliferation was identified for the first time in SOD and may be involved in both bone and tooth resorption mechanisms.
Topics: Child; Female; Humans; Maxilla; Microscopy, Electron, Scanning; Odontodysplasia
PubMed: 24042594
DOI: 10.2334/josnusd.55.259 -
Transcatheter Aortic Valve Replacement for Severe Aortic Regurgitation in Singleton-Merten Syndrome.JACC. Cardiovascular Interventions Nov 2018
Topics: Aortic Diseases; Aortic Valve Insufficiency; Dental Enamel Hypoplasia; Female; Humans; Metacarpus; Muscular Diseases; Odontodysplasia; Osteoporosis; Recovery of Function; Severity of Illness Index; Transcatheter Aortic Valve Replacement; Treatment Outcome; Vascular Calcification; Young Adult
PubMed: 30343025
DOI: 10.1016/j.jcin.2018.08.024