RESUMO
Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively). We identified two kindreds with DGI-II who exhibited vertical bands of hypoplastic enamel. Both families had a previously reported DSPP mutation that segregated with the disease phenotype. Oral photographs and dental radiographs of four affected and one unaffected participant in one family and of the proband in the second family were used to document the dental phenotypes. We aligned the 33 unique allelic DSPP sequences showing variable patterns of insertions and deletions (indels), generated a merged dentin phosphoprotein (DPP) sequence that includes sequences from all DSPP length haplotypes, and mapped the known DSPP mutations in this context. Analyses of the DSPP sequence changes and their probable effects on protein expression, as well as published findings of the dental phenotype in Dspp null mice, support the hypothesis that all DSPP mutations cause pathology through dominant-negative effects. Noting that Dspp is transiently expressed by mouse pre-ameloblasts during formation of the dentino-enamel junction, we hypothesize that DSPP dominant-negative effects potentially cause cellular pathology in pre-ameloblasts that, in turn, causes enamel defects. We conclude that enamel defects can be part of the dental phenotype caused by DSPP mutations, although DSPP is not critical for dental enamel formation.
Assuntos
Hipoplasia do Esmalte Dentário/genética , Displasia da Dentina/genética , Dentinogênese Imperfeita/genética , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/fisiologia , Fosfoproteínas/genética , Fosfoproteínas/fisiologia , Sialoglicoproteínas/genética , Sialoglicoproteínas/fisiologia , Adolescente , Ameloblastos/metabolismo , Ameloblastos/patologia , Sequência de Aminoácidos , Análise Mutacional de DNA , Feminino , Genes Dominantes , Genótipo , Haplótipos , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Linhagem , FenótipoRESUMO
In this article, we will explore the use of the stainless steel crown (SSC) in dentistry today. For the pediatric population, many factors can affect the choice of restoration, such as the variations between primary and permanent tooth morphology, oral environment, and patient selection. The current literature and dentistry guidelines encourage dentists to make an informed decision when determining the restoration recommended for a carious primary molar. To further help educate dental providers on the topic of SSCs the following items will be reviewed: the indications; techniques for placement; advantages; and drawbacks when compared to alternative restorative materials. Regardless of personal opinion, the SSC should continue to be recognized for its efficiency, cost-effectiveness, and successful treatment modality.
Assuntos
Coroas , Assistência Odontológica para Crianças/métodos , Cárie Dentária/terapia , Cimentação/métodos , Criança , Ligas Dentárias , Humanos , Dente Molar , Aço Inoxidável , Preparo Prostodôntico do Dente/métodos , Dente DecíduoRESUMO
The purpose of this report is to describe the diagnosis and dental treatment of a medically complex 14-year-old boy with X-linked hypophosphatemic rickets who presented with a pre-eruptive abscess on a mandibular molar and facial swelling.