High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control study
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.
Abstract: Background
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.
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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.
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TL;DR: In this article , the functional salivary analysis was performed to identify mutually activated pathways for NF1-associated oral complications, including periodontal destruction, salivial changes, and dental caries in NF1 patients.
Abstract: Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patients without tumors in the oral cavity.Eleven NF1 patients without tumors in the oral cavity and 29 matched controls without NF1 were enrolled in this case-control study. Demographic information, medical history, and data of intraoral examinations, including the Decayed, Missing, and Filled Teeth (DMFT) scores and Russel's periodontal index (PI), were recorded. The functional salivary analysis was performed for sialometry, salivary pH values, and amylase activity. Ingenuity Systems Pathway Analysis (IPA) was conducted to identify mutually activated pathways for NF1-associated oral complications.NF1 patients were associated with periodontitis (OR = 1.40, 95% CI = 1.06-1.73, P = 0.04), gingivitis (OR = 1.55, 95% CI = 1.09-2.01, P = 0.0002), and decreased salivary flow rates (OR = 1.40, 95% CI = 1.05-1.76, P = 0.005). Periodontal destruction, salivary changes, and dental caries in NF1 patients were age-dependent. Subgroup analyses based on age stratification suggested that salivary flow rates and salivary amylase activities were significantly low in NF1 patients aged over 20 years and that salivary pH values, PI and DMFT scores were significantly high among NF1- controls aged over 20. All oral complications were not significantly presented in NF1 patients aged below 20 years. IPA analyses suggested that cellular mechanisms underlying NF1-associated oral complications involved chronic inflammatory pathways and fibrosis signaling pathway.NF1 patients without tumors in the oral cavity presented a comparatively high prevalence of age-dependent oral complications, including periodontal destruction and salivary gland dysfunction, which were associated with chronic inflammatory pathogenesis.
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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.
8 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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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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References
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TL;DR: The autopsy findings of a 63‐year‐old man with neurofibromatosis type 1 (NF1), in whom widespread ischemic brain lesions caused by vasculopathy associated with the disorder were observed, provide useful information about the pathomechanisms underlying central nervous system manifestations in patients with NF1.
Abstract: We report the autopsy findings of a 63-year-old man with neurofibromatosis type 1 (NF1), in whom widespread ischemic brain lesions caused by vasculopathy associated with the disorder were observed. The patient, who had cafe au lait macules, axillary freckling, and neurofibromas, was inarticulate of speech, had difficulty in maintaining a sitting position, and was hyporeactive at the age of 57 years. He then developed autonomic dysfunction, followed by consciousness disturbance and status epilepticus. Repeated MRI studies disclosed multiple, ill-defined lesions in the brain and progressive cerebral atrophy. The histopathological features of the lesions were those of ischemia that had occurred with spatiotemporal variability in the brain. Characteristically, many arteries in the subarachnoid space manifested accumulation of cells in the intimal layer: this hyperplasia had resulted in narrowing and occlusion of the lumen. Immunoblotting demonstrated a marked decrease of neurofibromin, the NF1 product, which is known to act as a functional molecule in the normal process of vascular maintenance and repair. This case provides useful information about the pathomechanisms underlying central nervous system manifestations in patients with NF1.
8 citations