ABSTRACT
RESUMO Introdução: Diariamente o cirurgião dentista se depara com diversos casos que exigem acurácia no diagnóstico inicial e atenção para o tratamento que irá ser proposto, uma dessas é a amelogênese imperfeita, que é uma rara alteração dentária de caráter hereditário. As características principais da amelogênese imperfeita são hipomineralização ou hipoplasia da matriz de esmalte, o que ocasiona descoloração, sensibilidade e fragilidade deste tecido, apresentando diferentes subtipos clínicos, sendo a variante hipoplásica a mais prevalente. Objetivo: Relatar dois casos de amelogênese imperfeita do tipo hipoplásica entre membros de uma mesma família, correlacionando-os. Apresentação do caso: O diagnóstico foi feito através dos exames clínico e radiográfico, além da correlação entre os achados clínicos encontrados em cada paciente e com outros familiares, sendo proposto um plano de tratamento multidisciplinar e consistente com a condição adequada. Conclusões: É importante para o cirurgião dentista estudar e conhecer essas alterações raras para poder estabelecer diagnóstico preciso. Além disso, deve-se ampliar a conduta clínica através de um planejamento individualizado e/ou familiar, tratando não apenas aspectos estéticos e funcionais, mas também psicológico e sociais(AU)
RESUMEN Introducción: Diariamente el cirujano dentista se enfrenta a varios casos que exigen precisión en el diagnóstico inicial y atención para el tratamiento que se propondrá, una de las cuales es la amelogénesis imperfecta, que es un rara alteración dental de carácter hereditario. Las características principales de la amelogénesis imperfecta son hipomeralización o hipoplasia de la matriz de esmalte, lo que ocasiona decoloración, sensibilidad y fragilidad de este tejido, con la presencia de diferentes subtipos clínicos, siendo la variante hipoplásica la más prevalente. Objetivo: Informar dos casos de amelogénesis imperfecta del tipo hipoplásica entre miembros de una misma familia, correlacionándolos. Presentación del caso: El diagnóstico se realizó a través de los exámenes clínicos y radiográficos, además de la correlación entre los hallazgos clínicos encontrados en cada paciente y con otros familiares, por lo que fue propuesto un plan de tratamiento multidisciplinario y consistente con la condición adecuada. Conclusiones: Es importante para el cirujano dentista que estudie y conozca estos cambios raros para poder establecer un diagnóstico preciso. Además, se debe ampliar la conducta clínica a través de una planificación individualizada y / o familiar, tratando no solo aspectos estéticos y funcionales, sino también psicológicos y sociales(AU)
ABSTRACT Introduction: Dental surgeons are confronted every day with several cases that require accuracy in the initial diagnosis and attention to the treatment that will be proposed. One of these is amelogenesis imperfecta, a rare hereditary tooth alteration. The main features of amelogenesis imperfecta are hypomineralization or hypoplasia of the enamel matrix resulting in discoloration, sensitivity and fragility of this tissue. Of the existing clinical subtypes, the hypoplastic variant is the most prevalent. Objective: Report and correlate two cases of hypoplastic amelogenesis imperfecta in members of the same family. Case presentation: The diagnosis was based on clinical and radiographic examination, as well as analysis of the correlation between the clinical findings obtained from each patient and other relatives. The treatment plan proposed was therefore multidisciplinary and appropriately consistent with the condition. Conclusions: It is important for dental surgeons to study and be aware of these rare changes to be able to establish an accurate diagnosis. On the other hand, clinical management should be broadened through individualized and/or family planning, paying attention not only to esthetic and functional aspects, but psychological and social as well(AU)
Subject(s)
Humans , Male , Adolescent , Patient Care Planning/standards , Sensitivity and Specificity , Amelogenesis Imperfecta/diagnostic imagingABSTRACT
Abstract Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. Objective: This study aimed to describe and determine the frequency of clinical and radiographic features and inheritance patterns found in 41 Chilean families diagnosed with diverse types of AI. Material and Methods: We analyzed the clinical records, photographs, pedigrees and radiographs of 121 individuals recruited between 2003 and 2016. All of the information was included in a database that was analyzed using the application Stata 14. Results: The 72 affected individuals had average age of 16 years, and no sex association with the presence of AI was found. The most frequent clinical subtypes were as follows: 43% hypomature, 25% hypoplastic, 21% hypomature/hypoplastic, 7% hypocalcified and 4% hypocalcified/hypoplastic. The number of severely affected teeth was 22, which occurred in the patients with hypocalcified and hypocalcified/hypoplasic AI who presented the highest number of damaged teeth. Caries and periodontal disease were found in 47 and 32% of the patients, respectively. Malocclusions were observed in 43% of the individuals with AI, with open bite being the most frequent. Radiographically, the thickness of the enamel decreased in 51% of the patients, and 80% showed decreased radiopacity of the enamel compared to that of dentin. Autosomal dominant inheritance pattern was found in 37% of the families with hypoplastic AI, and autosomal recessive pattern was present in 56% of the other clinical subtypes, but more frequently in those affected with hypomature and hypocalcified AI. Conclusion: Of the five clinical subtypes, autosomal recessive hypomature, autosomal dominant hypoplastic and autosomal recessive hypomature/hypoplastic AI were the most prevalent subtypes in this group.