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Journal ArticleDOI

High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control study

28 Feb 2015-Orphanet Journal of Rare Diseases (BioMed Central)-Vol. 10, Iss: 1, pp 24-24

TL;DR: Hyposalivation may be a consequence of NF1, as occurs in other genetic diseases, and more studies are necessary to understand if there is and what is the relationship between NF1 and hyposalivation.

AbstractBackground Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and has widely variable expressivity. Oral manifestations are common, but there are no studies that investigated functional alterations in salivary glands in NF1. Our aim was to evaluate the salivary flow rate in NF1 individuals, comparing to a control group, and to investigate the possible causes and some consequences of salivary gland alteration.

Topics: Neurofibromatosis (58%), Salivary gland (52%)

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Citations
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Journal ArticleDOI
TL;DR: The oral manifestations of neurofibromatosis type 1 are reviewed, illustrated by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which the patient works.
Abstract: 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.

7 citations


Cites background from "High prevalence of hyposalivation i..."

  • ...It is described as 4-fold higher than in the control group [76]....

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Journal ArticleDOI
TL;DR: Brazilian children, adolescents and adults with NF1 have short mandible, maxilla and skull base, and children and adolescents present mandibular retrusion.
Abstract: BACKGROUND Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. MATERIAL AND METHODS This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group paired by age, gender and skin color. RESULTS Individuals with NF1 had lower maxillary length (p<0.0001), lower mandibular length (p<0.0001), lower skull base length (p<0.0001). In children and adolescents, the mandible was more posteriorly positioned (p=0.01), when compared with the control group. There was no association between jaws and skull base length with the height of the individuals with NF1. CONCLUSIONS Brazilian children, adolescents and adults with NF1 have short mandible, maxilla and skull base. Moreover, children and adolescents present mandibular retrusion.

6 citations


Cites background from "High prevalence of hyposalivation i..."

  • ...(4–10) The most common oral manifestations in NF1 are the enlargement of fungiform papillae of the tongue, intraoral neurofibromas, alveolar ridge deformities, enlargement of the mandibular canal and mandibular foramen, and hyposalivation (4-10)....

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Journal ArticleDOI
TL;DR: The experience of dental caries in individuals with FXS was correlated with salivary parameters, poor oral hygiene, lower socioeconomic status and an increased count of S. mutans in saliva.
Abstract: Fragile X syndrome (FXS) is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled drugs in these patients. Dental health was estimated using the decayed, missing and filled teeth index (DMF-T) and sialometry, and the pH value and buffering capacity of the saliva, colony forming units of S. mutans (CFU/mL), visible biofilm index, and socioeconomic status were all examined. The sample, comprising 23 individuals, had an average age of 17.3 ± 5.6 years, a DMF-T index of 5.5, a diminished salivary flow (78.3%), and a low (73.9%) saliva buffering capacity. Most (52.2%) individuals presented with a high abundance (CFU/mL) of S. mutans. The experience of caries was correlated with salivary parameters, poor oral hygiene, lower socioeconomic status and an increased count of S. mutans in saliva.

5 citations


DOI
19 Apr 2018
TL;DR: 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.
Abstract: 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.

4 citations


Cites background or methods from "High prevalence of hyposalivation i..."

  • ...[37] performed a casecontrol study with 49 individuals diagnosed with NF1 and a control group of 40 individuals not diagnosed with NF1....

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  • ...They observed that NF1 patients had higher prevalence of hyposalivation when compared with the control group [37]....

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Journal ArticleDOI
TL;DR: It can be stated that NF1-related oral manifestations can be detected during childhood and adolescence, in particular for neurofibromas, enamel defects, shape anomalies, and poor oral hygiene.
Abstract: Background: Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder. The expression of NF1 is extremely variable considering the broad spectrum of mutations affecting the gene(s) responsible for the pathology. Aim: To investigate the prevalence of oral manifestations in a group of children affected by neurofibromatosis type 1. Design: 100 pediatric patients, with genetically confirmed NF1 were enrolled in this study and matched to a total of 100 healthy children. Clinical examination was used to investigate: dental caries, dental abnormalities, periodontal health, neurofibromas, malocclusions, and enamel defects. Results: Mann Whitney’s test concerning prevalence of dental caries resulted in a no significant difference between the two groups (p = 0.90); a significant difference was highlighted as regards the other kinds of manifestations as well: enamel defects (p = 0.01), neurofibromas (p = 0.0043) and poor oral hygiene (p = 0.0002) with a higher prevalence of these features in NF1 patients than healthy controls. Similar results come out, regarding dental abnormalities in which can observe a significant difference between shape anomalies (p < 0.001). Conclusion: According to data obtained from the present study, it can be stated that NF1-related oral manifestations can be detected during childhood and adolescence. In particular for neurofibromas, enamel defects, shape anomalies, and poor oral hygiene.

2 citations


References
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TL;DR: To deal with the exceedingly difficult health care issues posed by frail elderly persons, health professionals need to collect, organize, and use a vast array of clinically relevant information.
Abstract: he population of elderly persons in the developed nations is growing with extraordinary rapidity. Although the majority enjoy good T health, many older people suffer from multiple illnesses and significant disability. Comprehensive assessment methodologies, while not solely applicable to frail elderly persons, are believed to be particularly suited to their situation. These individuals tend to exhibit great medical complexity and vulnerability; have illnesses with atypical and obscure presentations; suffer major cognitive, affective, and functional problems; are especially vulnerable to iatrogenesis; are often socially isolated and economically deprived; and are at high risk for premature or inappropriate institutionalization. To deal with the exceedingly difficult health care issues posed by frail elderly persons, health professionals need to collect, organize, and use a vast array of clinically relevant information. This process, compre-

1,345 citations


01 Jan 2017
TL;DR: The Plummer-Vinson syndrome has come increasingly rare with the availabil¬ ity of iron supplements, but nonetheless it should be suspected in the setting of dysphagia and iron deficiency.
Abstract: Plummer-Vinson syndrome is characterized by dysphagia, iron-deficiency anemia, and esophageal webs. The webs are best diagnosed by cineradiography. Iron repletion often improves the dysphagia, although some patients require esophageal dilatation or bougienage. The syndrome is associated with an increased incidence of postcricoid carcinoma, and surveillance endoscopy is recommended. (Arch Intern Med. 1995;155:2008-2011) The Plummer-Vinson syndrome has be¬ come increasingly rare with the availabil¬ ity of iron supplements, but nonetheless it should be suspected in the setting of dysphagia and iron deficiency. The follow¬ ing case illustrates the clinical, radiographic, and endoscopie presentation of this syndrome.

792 citations


Journal ArticleDOI
TL;DR: The prevalence of oral and radiographic findings in this sample was 72%, which is much higher than previously reported and the five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.
Abstract: Oral manifestations of neurofibromatosis have been reported in only 4% to 7% of affected persons. All oral tissues, hard and soft, have been reported to be affected with tumors, but the tongue has been the most common site. We report on the oral and radiographic findings in twenty-two patients with neurofibromatosis. The prevalence of oral and radiographic findings in our sample was 72%, which is much higher than previously reported. The five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.

119 citations


Journal ArticleDOI
TL;DR: No relationship between the appearance of the tongue and salivary bacterial load could be detected and there was no difference in bacterial load between the healthy/gingivitis and the periodontitis group within the present study population.
Abstract: Background The papillary structure of the dorsum of the tongue forms a unique ecological site that provides a large surface area favoring the accumulation of oral debris and microorganisms. These micro-organisms of the tongue may be of influence on the flora of the entire oral cavity. The normal appearance of the dorsum of the tongue is either pinkish or has a thin white coating. For the present study a scoring method was developed to describe the appearance of the dorsum of the tongue in relation to the extent of color and thickness of tongue coating. Aim The purpose of this study was to investigate the discoloration and coating of the tongue in healthy/gingivitis subjects and periodontitis patients. Furthermore, to determine the relationship between the appearance of the tongue and the bacterial load in salivary samples. Material and methods 2 groups of patients were studied, 70 healthy/gingivitis subjects and 56 periodontitis patients. After scoring of the tongue a salivary sample of each patient was taken and analyzed using a phase-contrast microscope. Results This investigation showed that most discoloration was found on the distal part of the tongue. The mean number of bacteria per ml sample in relation to a pink, white and yellow appearance of the tongue was 948, 855 and 900 (x 10(6)) respectively. The mean number of bacteria per ml sample in relation to no, thin and thick coating was 948, 863, and 895 (x 10(6)), respectively. Analysis did not reveal a relationship between discoloration, coating thickness and total bacterial load. The mean number of bacteria per ml in healthy/gingivitis subjects was 860 and in periodontitis patients 918 (x 10(6)). Conclusion No relationship between the appearance of the tongue and salivary bacterial load could be detected. There was no difference in bacterial load between the healthy/gingivitis and the periodontitis group within the present study population.

111 citations


Journal ArticleDOI
TL;DR: Evidence of alternative splicing in this region of the NF1 gene is identified using reverse transcription-polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, and an isoform bearing an extra 30 bp sequence between exons 9 and 10a is proposed to be called exon 9br.
Abstract: The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is involved in cardiac development while in the adult, neurofibromin (the corresponding protein) is mainly expressed in the nervous system, and therein, essentially in neurons, non-myelinating Schwann cells and oligodendrocytes. In addition, the NF1 gene is considered a tumor suppressor gene, since mutations have been associated with the occurrence of benign and malignant tumors in neuralcrest-derived tissues. Using reverse transcription-polymerase chain reaction (RT-PCR) analyses with primers located in exons 7 and 13, we have identified evidence of alternative splicing in this region of the NF1 gene. Cloning and sequencing of cDNA allowed the characterization of an isoform bearing an extra 30 bp sequence between exons 9 and 10a, leading to the insertion of 10 amino acids between residues 420 and 421 of neurofibromin. The insertion is conserved in the mouse. Examination of the pattern of expression of this isoform demonstrated a high level of expression in the central nervous system and an absence of expression in all the other normal tissues tested including peripheral nervous tissues derived from the neural crest. Analysis of brain tumors indicated a reduced expression of the alternative exon in medulloblastomas and oligodendrogliomas. The results presented here are consistent with tissue-specific expression of this alternative exon which we propose to call exon 9br.

92 citations