Objectives: A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial abnormalities by means of clinical survey, panoramic and cone beam CT (CBCT); to compare the patient's group with an age-sex matched control group; and to correlate clinical and radiological data. Methods: Ten patients previously diagnosed with GD were submitted to clinical and radiological surveys (CBCT and panoramic radiographs). The examination consisted of anamnesis, extra-and intraoral examinations and analyses of each patient's records. Imaging data were collected from the point of view of 3 observers, and the results compared with a healthy group (20 individuals) by means of statistical analysis (Fisher's exact test). Results: Gaucher patients had significantly more manifestations than otherwise healthy carriers. The most prevalent findings were enlarged marrow spaces, generalized osteopenia and effacement of jaw structures (mandibular canal, lamina dura and mental foramen). Here we describe a case in which thickening of the maxillary sinus mucosa was observed on CBCT rather than opacification of the sinus as seen on panoramic radiographs. Pathological fractures, root resorption and delay on tooth eruption were not observed. Conclusions: A poor relationship could be observed between clinical and radiological data. Patients showed important bone manifestations, which require careful diagnostic and surgical planning whenever necessary. Although panoramic radiographs have shown significant differences, CBCT is more effective in pointing out differences between patients and a control group, thus showing it as an important tool for evaluation of Gaucher patients.

No abstract

Lichen planus is a mucocutaneous disease of inflammatory nature and unknown etiology. It is characterized by a cell-mediated immunological response to induced antigenic change in skin and/or mucosa. The possible malignant transformation of lichen planus remains a subject of controversial discussions in the literature. hMSH2 is one of the human DNA mismatch repair (hMMR) genes and it plays an important role in reducing mutation and maintaining genomic stability. hMSH2 alterations have been reported in oral squamous cell carcinoma and there are evidences suggesting the association between oral lichen planus and squamous cell carcinoma. In this study, we aim to investigate the immunolocalization of hMSH2 protein in oral lichen planus compared to oral normal mucosa epithelium. We examined the expression of hMSH2 protein by immunohistochemistry in twenty-six cases of oral lichen planus. Clinically, 12 of them were categorized into reticular subtype and 14 were atrophic/erosive. Ten cases of normal mucosa were added to the control group. Results showed that the percentage of positive cells to hMSH2 was smaller in reticular (46.54%; p=0,006) and atrophic/erosive (48.79%; p=0,028) subtypes of oral lichen planus compared to normal mucosa (61.29%). The reduced expression of hMSH2 protein in oral lichen planus suggests that this lesion is more susceptible to mutation and therefore facilitate the development of oral squamous cell carcinoma.

By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.

Congenital epulis is an uncommon benign lesion that affects the oral cavity of newborns ResumoA epúlide congênita é uma lesão benigna rara que acomete a cavidade oral de recém-nascidos e apresenta características histológicas semelhantes às do tumor de células granulares. A origem da lesão ainda não foi completamente elucidada, e as muitas hipóteses a respeito de sua histogênese baseiam-se na grande variedade de tipos celulares observados nos cortes histológicos. A epúlide desenvolve-se ainda no período pré-natal, e é mais comum em recém-nascidos do sexo feminino, ocorrendo com mais freqüência na maxila. Esta lesão costuma apresentar-se como um nódulo coberto por mucosa oral normal que, em alguns casos, interfere na respiração e na alimentação do bebê. Esse artigo descreve o caso de um bebê do gênero masculino, leucoderma, de dois meses de idade, que apresentava lesão intra-oral pediculada com implantação débil na região alveolar da mandíbula. Cortes histológicos revelaram a presença de fragmento de mucosa revestido por epitélio pavimentoso estratificado atrófico, e de tecido conjuntivo fibroso composto de células com citoplasma granular e eosinofílico abundante. Alguns dias após o exame inicial, a lesão desprendeu-se do rebordo alveolar, sofrendo resolução espontânea.Termos de indexação: Doenças da gengiva. Neoplasias gengivais. Recém-nascido.