An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases

Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study. Conclusions: Ectodermal dysplasia cases have a particular place in dentistry and require a professional, multi- disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved

A c.3037G > A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G > A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal -growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity

a composite laminate veneer technique for diastema closure a report of ten cases

Aim: Diastemas can be treated using periodontal, surgical, orthodontic, or prosthetic procedures. Composite laminate veneers can be applied to reduce or eliminate diastemas and represent a good aesthetic non-invasive alternative for these patients. This study presents the treatment results of 10 patients with diastemas between the anterior teeth of the maxilla and mandible with composite veneers. Methodology: Ten patients with diastemas between the anterior maxillary and mandibular teeth complaining of esthetic problems were treated at the Department of Operative Dentistry, University of Dicle. The periodontal health of the patients was acceptable and no caries were detected. Patients were informed of the treatment choices and composite resin veneers were selected as the better approach for each case. The presence of a diastema causes esthetic problems, especially in adolescents. Prosthetic and conservative methods are usually used to treat diastemas because these approaches are minimally invasive. The direct laminate technique has the advantages of low cost, treatment reversibility, and easy repair of the restoration intraorally. The direct composite laminate technique has become more effective because of improvements in adhesive dentistry. Conclusion: This study describes a direct composite laminate technique for the restoration of the anterior teeth of 10 patients with diastemas. These restorations were conservative and provide an inexpensive, one-visit aesthetic treatment for anterior teeth. How to cite this article: Bahşi E, Callea M, İnce B, Montanari M, Dallı M, Batteli F, Akdoğan M, Gabriella C, Toptancı İR, Gabriela P, Yavuz İ. A Composite Laminate Veneer Technique for Diastema Closure: A Report of Ten Cases. Int Dent Res 2012;2:67-74. Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English

Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed

Ear Nose Throat Manifestations In Hypoidrotic Ectodermal Dysplasia

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form

An Interdisc\u131plinary Approach in a Patient with Amelogenesis Imperfecta: A Clinical Report and Literature Review

This clinical report describes an interdisciplinary approach for the coordinated treatment of a 20- year\u2013old woman patient diagnosed with amelogenesis imperfecta. The treatment objective was to restore masticatory function, to reduce dental sensitivity and improve the facial esthetics. A multidisciplinary team approach treatment is recommended, including periodontology, orthodontics, endodontics, and prosthodontics. Prosthodontic treatment included composite laminate veneers and metal-ceramic fixed partial dentures. After treatment the patient was regularly recalled during the 25-months postoperative period. Radiographic and clinical examinations at recall revealed no evidence of complications associated with the restored teeth or their supporting structures. Case report & Review (J Int Dent Med Res 2012; 5: (3), pp. 169-172) Keywords: Amelogenesis imperfecta, prosthodontic treatment, interdisciplinary approach, enamel hypoplasia, esthetics