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

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...

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Published in:Orphanet journal of rare diseases 2015-02, Vol.10 (1), p.24-24
Main Authors: Cunha, Karin Soares, Rozza-de-Menezes, Rafaela Elvira, Luna, Eloá Borges, Almeida, Lilian Machado de Sousa, Pontes, Raquel Richelieu Lima de Andrade, Almeida, Paula Nascimento, de Aguiar, Letícia Vidaurre, Dias, Eliane Pedra
Format: Article
Language:English
Subjects:
Adult
Case-Control Studies
Comparative analysis
Complications and side effects
Development and progression
Female
Humans
Letter to the Editor
Male
Medical research
Medicine, Experimental
Middle Aged
Mycoses
Neurofibromatosis
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - pathology
Risk Factors
Salivation - physiology
Xerostomia - etiology
Xerostomia - pathology
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Summary: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. This is a case-control study that evaluated the salivary flow rate of NF1 individuals (n = 49) and compared to an age and sex-matched control group. We have also investigated the possible causes and consequences of hyposalivation in NF1 individuals through anamnesis, a specific questionnaire, physical examination, tongue coating evaluation and cytopathological exam to assess the prevalence of oral candidiasis. Hyposalivation at rest was present in 59% (29/49) of NF1 individuals in contrast to 22% (11/49) in the control group, being statistically significant (P
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-015-0239-4