Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

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.

Amelogenesis Imperfecta Enamel Changes, Amelogenin, and Dental Caries Susceptibility

“…There is great variability in the clinical presentation of amelogenesis imperfecta. It has been suggested for specific subpopulations that the most prevalent in the amelogenesis imperfecta group are autosomal recessive hypomature amelogenesis imperfecta and autosomal dominant hypoplastic amelogenesis imperfecta (17). Amelogenesis imperfecta is typically classified into four phenotypes: hypoplastic type I, hypomatured type II, hypocalcified type III, and hypoplastic-hypomaturation type IV (18).…”

Restoration of the dentition in a patient with a history of bruxism and amelogenesis imperfecta: A clinical report

“…Based on the problems such as moderate to severe dental wear, short clinical crowns, gray and yellow colors of the teeth, and some pulpal sensitivity of the mandibular anteriors, the definitive diagnosis included hereditary hypoplastic‐type amelogenesis imperfecta and severely worn dentition with loss of VDO caused by a history of sleeping bruxism 11,12 . The treatment objectives were to avoid the teeth from becoming shorter by wearing a resilient night splint, to prevent dentin sensitivity, and to meet requirements for function and esthetics by dental restorations.…”

Adequacy of the environment in patients with imperfect amelogenesis: psychological aspects / Adequação do ambiente em doentes com amelogénese imperfeita: aspectos psicológicos

“…Adorno-farias (7) reported the presence of periodontal disease, diastemas, insertion of high or low lip brakes and ogival palate that occur with frequencies equal to or higher than 22% in children with Imperfect Amelogenesis. The presence of periodontal disease, more specifically gingivitis, has been reported in more than 40 published scientific articles (1,4) , ranging from gum inflammation to periodontitis, associated with poor oral hygiene and the presence of gum disease.…”