PHACES syndrome and multi-regional odontodysplasia: a case report.

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.

Regional odontodysplasia with facial cellulitis: a case report and literature 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.

Segmental Odontomaxillary Dysplasia: A Case Report and Review of the Literature.

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.

Mandibular Involvement Associated With Segmental Odontomaxillary Dysplasia: A Case Series.

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.

Regional odontodysplasia on the left side of the mandible: report of an unusual case.

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.

Mandibular Regional Odontodysplasia in a Toddler.

Regional odontodysplasia (ROD) is a rare developmental anomaly with distinctive clinical, radiographical and histological findings, affecting both primary and permanent dentitions. The teeth with ROD have an atypical morphology and are usually discolored, with either delayed eruption or complete failure to erupt. Radiographically, the affected teeth have a "ghostly" appearance, with marked radiolucency and decreased radiodensity, showing a thin outline of enamel and dentin, which appear hypomineralized histologically, with poorly structured dentinal tubules and enamel prisms. Calcifications are frequently found in the pulp chambers of the affected teeth. This case report discusses a three-year-old girl who presented with ROD in her mandible as well as the clinical and radiographical features, and treatment of the condition.

Regional Odontodysplasia: A Systematic Review of Case Reports.

Regional odontodysplasia is a rare developmental disorder characterised by hypoplasia and hypomineralisation of enamel and dentin. Our systematic review aimed to organise the knowledge on localisation, symptomatology and treatment methods in patients with regional odontodysplasia based on case reports published in the databases PubMed, Scopus and Web of Science. Case reports were described in 28 different countries, considering 180 patients (including 91 females). Regional odontodysplasia occurs mainly in both deciduous and permanent dentition (66.1%). The affected teeth were observed more frequently in the maxilla (70.0%), especially on the left side (45.6%). The most common reported symptoms were ghost teeth, poorly developed buds, yellowish-brown colour of crowns and delayed eruption of permanent teeth in affected quadrants. The most popular treatment method was surgical treatment (78.6%) with subsequent prosthetic therapy (34.6%). Based on the review of cases, pathognomonic clinical and radiological signs can be found, however, it is difficult to reach a consensus on the choice of treatment method.

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.

More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene implicated in the lethal disorder achondrogenesis (ACG1A). Here we report the clinical and radiological follow-up of four ODCD patients, including two siblings and an adult who interestingly has the mildest form observed to date. Four TRIP11 variants were detected, two previously unreported. Subsequently, we review the clinical and radiological findings of the 14 reported ODCD patients. The majority of ODCD patients are compound heterozygotes for TRIP11 variants, 12/14 have a null allele and a splice variant whilst one is homozygous for an in-frame splicing variant, with the splice variants resulting in residual GMAP activity and hypothesized to explain why they have ODCD and not ACG1A. However, adult patient 4 has two potentially null alleles and it remains unknown why she has very mild clinical features. The c.586C>T; p.(Gln196*) variant, previously shown by mRNA studies to result in p.Val105_Gln196del, is the most frequent variant, present in seven individuals from four families, three from different regions of the world, suggesting that it may be a variant hotspot. Another variant, c.2993_2994del; p.(Lys998Serfs*5), has been observed in two individuals with a possible common ancestor. In summary, although there are clinical and radiological characteristics common to all individuals, we demonstrate that the clinical spectrum of TRIP11-associated dysplasias is even more diverse than previously described and that common genetic variants may exist.

Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. In this report, we Characterized the clinical manifestations with focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, we identified five novel mutations in the WNT10A gene, including two homozygous nonsense mutations c.1176C>A (p.Cys392*) and c.742C>T (p.Arg248*), one homozygous frame-shift mutation c.898-899delAT (p.Ile300Profs*126), and a compound heterozygous mutation c.826T>A (p.Cys276Ser) and c.949delG (p.Ala317Hisfs*121). Our findings confirmed that bi-allelic mutations of WNT10A were responsible for OODD and greatly expanded the mutation spectrum of OODD. For the first time, we demonstrated that bi-allelic WNT10A mutations could lead to anodontia of permanent teeth, which enhanced the phenotypic spectrum of WNT10A mutations. Interestingly, we found that bi-allelic mutations in the WNT10A gene preferentially affect the permanent dentition rather the primary dentition, suggesting that the molecular mechanisms regulated by WNT10A in the development of permanent teeth and deciduous teeth might be different.

Apical Elongation of Molar Teeth in Captive Microtus Voles.

Molar apical elongation (MAE) was the leading cause for euthanasia or death in a captive breeding colony of endangered Amargosa voles ( Microtus californicus scirpensis). Clinical signs included ocular discharge, abnormal mastication, dyspnea, abnormal mentation, weight loss, and death. Although the severity varied, all molars in all quadrants were affected. When severe, the overgrown molar reserve crown and apex protruded into the nasal meatuses, the orbit, the calvarial vault and through the ventral margin of the mandible. Overall prevalence in the colony was 63% (92/146 voles) and increased to 77% in aged voles (>1 year). Mean age of onset was 5.3 months (1.7-11.2 months). Progression to extreme severity occurred over 1 to 3 months. Mean survival was 10.9 months (7.1-21.7 months). Histologically, the lesion was characterized by odontogenic hyperplasia and dysplasia. MAE was also documented in museum specimens of 2 other M. californicus subspecies ( M. californicus californicus, M. californicus vallicola) and 3 other Microtus species ( M. montanus, M. pennsylvanicus, M. socialis). In the M. californicus californicus collection, overall prevalence was 35.1% (129/368 skulls) and increased to 77.3% in aged voles (>1 year). A probable genetic influence was identified in the museum collection of M. californicus californicus. The etiopathogenesis of MAE is likely multifactorial, due to (1) inherent continuous odontogenic proliferation, (2) inadequate occlusal attrition, and (3) possible heritable disease susceptibility. In captivity, dietary or other management of occlusal attrition to prevent or delay MAE is a fundamental concern.

Odontodisplasia regional: relato de caso clínico / Regional odontodysplasia: a case report

A Odontodisplasia Regional é uma anomalia dental rara, que envolve os tecidos dentários de origem ectodérmica (esmalte) e mesodérmica (dentina, polpa e cemento). O objetivo deste trabalho foi relatar um caso clínico de odontodisplasia regional em uma criança. Paciente de nove anos, sexo masculino, tendo como queixa principal a ausência de alguns dentes decíduos e a não irrupção dos dentes permanentes em determinada região da maxila. O dente 16, que havia irrompido, apresentava-se clinicamente, com um esmalte hipoplásico e hipomineralizado e uma imagem radiográfica bastante tênue, por isso sendo conhecido como "dente fantasma". Foram apresentados nesse relato, aspectos clínicos e radiográficos e destacadas as questões envolvidas na elaboração de um plano de tratamento. Há poucos estudos disponíveis sobre a odontodisplasia regional. A anamnese detalhada e o conhecimento das características clínicas e radiográficas são imprescindíveis para um correto diagnóstico.

Regional Odontodysplasia is a rare dental anomaly involving dental tissues of ectodermal (enamel) and mesodermal (dentin, pulp and cement) origin. The aim of this study was to report a case of regional odontodysplasia in a child. A nine-year-old male patient who the main complaint was the absence of some deciduous teeth and the non - eruption of permanent teeth in a specific area of the maxilla. The tooth 16, which had erupted, had hypoplastic and hypomineralized enamel, presenting a radiographic image lacking clearness, for that reason being known "ghost teeth". In this case report, clinical and radiographic aspects were presented and were highlighted the issues involved in the elaboration of a treatment plan. There are few available studies about regional odontodysplasia. The detailed anamnesis and the knowledge of the clinical and radiographic characteristics are essential for a correct diagnosis.

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma, aortic calcification, and skeletal abnormalities. Unlike subjects with classic SMS, affected individuals showed normal dentition, suggesting atypical SMS. To identify genetic causes of the disease, we performed exome sequencing in this family and identified a variant (c.1118A>C [p.Glu373Ala]) of DDX58, whose protein product is also known as RIG-I. Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. Cys268 and Glu373 residues of DDX58 belong to ATP-binding motifs I and II, respectively, and these residues are predicted to be located closer to the ADP and RNA molecules than other nonpathogenic missense variants by protein structure analysis. Functional assays revealed that DDX58 alterations confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression. In addition, when we transduced primary human trabecular meshwork cells with c.803G>T (p.Cys268Phe) and c.1118A>C (p.Glu373Ala) mutants, cytopathic effects and a significant decrease in cell number were observed. Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.

Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome.

Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a young girl with a history of aortic root replacement, who had an unusual progressive supra-aortic stenosis managed with urgent surgery during the course of the syndrome. Cardiovascular involvement needs special attention, since it is the major cause of mortality along with rhythm disturbances in the course of Singleton Merten Syndrome.

Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach.

This article aims to report the main clinical aspects, cone beam computed tomography (CBCT) findings, and conservative oral rehabilitation in a child born from a consanguineous marriage who presented with Hallermann-Streiff syndrome (HSS) and generalized odontodysplasia. A 5-year-old girl presented with a diagnosis of HSS for oral evaluation. Radiographically, all teeth showed wide pulp chambers and roots with thin dentinal walls and open apices, resembling ghost teeth and indicating a diagnosis of odontodysplasia. Oral rehabilitation consisted of partial dentures that were regularly adjusted to conform the device with the pattern of growth and development of the child. CBCT scan provided great insight into HSS, allowing a detailed view of the morphologic aspects and associated trabecular bone pattern. Treatment of these 2 rare conditions in young children must consider the stage of growth and development. Although extremely rare in HSS, odontodysplasia should be investigated and conservatively managed in young children.

Segmental odontomaxillary dysplasia.

Segmental odontomaxillary dysplasia is a type of hemi-maxillofacial dysplasia. It is a sporadic, mesoectodermal dysplasia that presents early in life, possibly as early as in utero and exhibits male gender predominance (1.7:1.0). Its features include enlargement of the soft tissue and/or bone of one hemimaxilla that may produce mild facial asymmetry, sclerotic radiographic bone changes and dental developmental abnormalities. The dense bone, which often exhibits a radiographic vertical orientation of the trabecular bone pattern, is generally associated with delayed eruption of the teeth. Congenitally missing premolar teeth (either or both) is a common feature of this condition that is of significant diagnostic value. Ipsilateral cutaneous findings have been reported in 23% of cases. Immature woven bone forming irregular patterns are seen histologically. Herein, we present a case report on segmental odontomaxillary dysplasia in a 13-year-old boy.

Single tooth odontodysplasia. Case report.

Odontodysplasia (ghost tooth) is an uncommon, nonhereditary developmental condition of unknown origin, affecting both mesodermal and ectodermal elements of the dental organ. To our knowledge, this case is unique in that it is only the second reported case of odontodysplasia affecting a single tooth. Based on clinical, radiographic and histologic findings, we diagnosed this tooth as a ghost tooth.

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome. The occurrence of the disorder in six members of two families and vertical male-to-male transmission indicate an autosomal dominant pattern of inheritance. Variability in phenotype, also within a single family, is significant. Core manifestations are marked aortic calcification, dental anomalies (delayed eruption and immature root formation of primarily the anterior permanent teeth, and early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss), osteopenia and acro-osteolysis, and to a lesser extend also glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion) and abnormal joint and muscle ligaments. The cause and pathogenesis of this syndrome remain unknown. © 2013 Wiley Periodicals, Inc.

Regional odontodysplasia: a case of progressive tooth development.

Regional odontodysplasia (RO) is considered a relatively rare dental anomaly despite increasing numbers of case reports in recent years. It usually presents as a localized anomaly in tooth development affecting a few adjacent teeth in a single maxillary or mandibular quadrant. The purpose of this paper is to describe an uncommon case of regional odotodysplasia involving noncontiguous mandibular teeth, crossing the midline in a male patient, and showing progressive normalization of tooth anatomy over a period of 6 years. Typically, teeth affected with RO become pulpally involved early on and are either extracted or endodontically treated. Such reports of automatic normalization over time in RO is supportive of a more conservative treatment approach.