Neurofibromatosis: Phenotype, Natural History, and Pathogenesis

Neurofibromatosis type 1 (NF-1) is a common genetic disorder with a highly variable phenotype. The disease affects both proliferation and differentiation of cells of neurectodermal origin. The presence of tumors is very common like benign nodular neurofibromas. Tumors with unclear prognosis may be present like plexiform neurofibromas whose prognosis is more uncertain. While many organs exhibit pathologies, most commonly affected are the nervous system, skin, gastrointestinal tract and heart. Oral abnormalities are also very common: 72% of NF-1 patients exhibit pathologies in oral mucosa, gums, maxillary and temporomandibular joints, and teeth. The incidence of NF-1 and its relationship to the prevalence of caries have been discussed in other researches. It is known that poor oral hygiene plays a key role in the development of periodontal disease and caries. Here we review the oral manifestations of neurofibromatosis type 1 that we illustrate by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which we work.

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Oral Manifestations of Neurofibromatosis Type 1

Objetivo: Verificar se ha contaminacao bacteriana nos cones de guta-percha acondicionados em dois diferentes tipos de armazenagem das clinicas odontologicas da Pontificia Universidade Catolica de Campinas. Nesta pesquisa foram coletados 39 cones de guta-percha de dois tipos de armazenagem: caixa lacrada (grupo-controle), recipiente seco e recipiente com umidade (glicerina), das Clinicas Odontologicas da Faculdade de Odontologia da Pontificia Universidade Catolica de Campinas. Esses cones de guta-percha foram inoculados em placas de Petri ao meio Brain Heart infusion, e armazenados em jarras de anaerobiose levadas a estufa a 37oC por 48 horas. Apos o periodo de incubacao de 24 e 48 horas, nao foi observado crescimento bacteriano em nenhuma das placas. Baseado nos resultados obtidos nesta pesquisa, conclui-se que os cones de guta-percha utilizados nas clinicas odontologicas da Pontificia Universidade Catolica de Campinas, independentemente dos meios de armazenagem, apresentam-se livres de contaminacao.

https://periodicos.puc-campinas.edu.br/seer/index.php/cienciasmedicas/article/download/1134/1109

Contaminação bacteriana dos cones de guta-percha utilizados nas clínicas odontológicas da Faculdade de Odontologia da Pontifícia Universidade Católica de Campinas

Neurofibromatose de von Recklinghausen.

This article reports a case of a female child, nine-years old, with a history of proptosis and progressive decrease of visual acuity. At ophthalmologic exam presented: best corrected visual acuity 20/20 on the right eye and light perception on the left eye; biomicroscopic exam was normal, weakness of left superior rectus and left inferior oblique muscle, exotropia and hypotropia to the left. At indirect ophthalmoscopy exam, fundus was normal on the right eye and had left optic disc with edema. computerized tomography showed a hiperdense tumor, fusiform shape in the optic pathway, suggesting optic nerve glioma. At physical exam, it was verified " cafe-au-lait" spots in the thorax and armpits and axillary freckles in the region, filling criteria to neurofibromatosis type I ( Von Recklinghausen´s disease).

/pdf/glioma-de-nervo-optico-achados-neuro-oftalmologicos-em-536mt7xpt0.pdf

Glioma de nervo óptico: achados neuro-oftalmológicos em paciente com neurofibromatose tipo I

Neurofibromatosis is a systemic hereditary disorder that mainly affects the skin and nervous system. It was identified for the first time by Friedrich Von Recklinghausen, being called the Von Recklinghausen syndrome. Some of the clinical symptoms can be visible since birth, however, most of them start to show up during childhood and adolescenceand, in women, phenotype becomes evident during pregnancy, due to the severe hormonal changesthat occur.
The goal of this research was to understand the way type I neurofibromatosis can affect the oral cavity and how the dental doctor can help. For that, several papers were selected from the search on the websites Pubmed, Elsevier andUptoDateusing the following keywords: neurofibromatosis, oral health, neurofibroma, oral cancer, GTP, type 1 neurofibromatosis.
Concerning clinical features at the oral cavity, more than one fourth of patients with this disorder can show neurofibromas in the mouth, usually isolated.Phenotype can include increased fungiform papillae, head and neck polyps, nodules in the posterior portionof the back of the tongue, dental mobility caused by lesionsin the gingival-dental-alveolar complex, changes in the number of teeth, molar retention, dental calculus, aplasia of the second bottom molarsandadvanced periodontal disease. Bone changes can be present like subperiosteal erosion, hyperplasia, hypoplasia, dysplasia in the wings of the sphenoidandshortsize.Concerning therapeutic strategies, some studies suggest that proteins of the mTOR pathway (mammalian target of rapamycin) can be the target for therapyof this disease in case of malignant transformation.

https://jmbas.in/index.php/jmbas/article/download/107/77

Type 1neurofibromatosis and effects on the stomatognatic system

OBJECTIVE To evaluate the bacterial contamination of different brands of Gutta-Percha (GP) points routinely used in clinical practice and the efficacy of a chairside disinfection protocol with sodium hypochlorite. METHODS GP points (n=240), in sizes A, B, C, D, K15, K20, K25, K30, K35, K40, F1, F2, F3 (Dentsply®, Proclinic®, ProTaper® and R&S®), were randomly sampled from commercial packages already in use. These were added directly to Fluid Thioglycolate Medium (one GP point per tube) and incubated at 37oC for 21 days. During this period, the presence/absence of turbidity was evaluated. To evaluate the efficacy of a chairside disinfection protocol, all detected contaminated GP points were immersed for 1 minute in 10 mL of 5.25% sodium hypochlorite, followed by 5 minutes in 10 mL of detergent solution (3% Tween 80 and 5% sodium thiosulfate) and a final rinse with 10 mL of sterile distilled water and incubated. The data was analysed using the chi-square test and differences between characteristics of dichotomic variables were performed using the binomial test. The significance level was set at P<0.05. RESULTS Bacterial growth was observed in 22.9% of the total study samples. Dentsply® and R&S® showed the highest level of contamination, 47.3% each, although without significant differences to the other commercial brands. The most contaminated GP point size was K30 (16.4%). The chairside disinfection protocol was effective in disinfection of 76.4% of GP points (P<0.001). CONCLUSION A real small number of GP points in clinical use harboured bacteria, including after the Chairside Disinfection Protocol that, anyway, proved to be effective. No significant difference was observed between tested commercial brands.

https://bdigital.ufp.pt/bitstream/10284/9432/1/Bracciale_et_al_2020.pdf

Anariely Noronha

Papers

Type 1neurofibromatosis and effects on the stomatognatic system

Bacterial Contamination of Gutta-Percha Points From Different Brands and the Efficacy of a Chairside Disinfection Protocol