Ellis–van Creveld syndrome is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, ectodermal dysplasia, postaxial polydactyly, and congenital heart malformations. In this article, we hereby present a case of a 6-year-old Brazilian boy with Ellis–van Creveld syndrome who presented with a remarkable number of classical oral and dental features and uncommon findings such as taurodontism. Clinical examination revealed multiple enamel hypoplasia, absent vestibular sulcus, alveolar serrations in the maxilla anterior region, missing teeth, conical teeth, lower canine rotation, bilateral posterior crossbite, dental caries, and a nodule. Radiographically were observed teeth agenesis, taurodontism of deciduous and permanent molars, and delayed tooth eruption. Clinical and radiographic findings may be present from birth and the pediatric dentist has a fundamental role in the early diagnosis of Ellis–van Creveld syndrome, as well as oral problems prevention, rehabilitation, and aesthetic interventions.
Summary
Background
Paracoccidioidomycosis (PCM) is a neglected fungal infection with a high impact on the quality of life of the affected patients. The disease presents primary pulmonary involvement and systemic dissemination may occur. About 50% of the cases show oral involvement, and the factors that lead to this manifestation are not clear.
Objectives
The aim of this study was to evaluate the DNA methylation profile in PCM patients with oral lesions.
Material and Methods
Genomic DNA was extracted from whole blood of eighteen PCM patients, being ten with oral lesions and eight with no oral lesion. Analysis of methylation profile was performed using the technique of methylation‐sensitive arbitrarily primed PCR (MS‐AP‐PCR). The sequences of recombinant plasmids obtained were evaluated according to parameters that define a CpG island, as well as their relative position in the known human genome genes and/or CpG islands.
Results
After DNA amplification, three different expressed bands were observed between the two groups, being found in the samples of patients with no oral manifestations. The cloned fragment in the plasmid showed similarity with a DNA sequence present in chromosome 20, next to the YTHDF1 gene. Other bands showed homology with intronic region in the genes RBPMS2 and DPH6 and no CpG island was identified.
Conclusions
DNA methylation was found in PCM patients with no oral lesion affecting the YTHDF1 gene. Further studies are necessary to elucidate to role of YTHDF1 gene in the oral PCM manifestations.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.