A review neurofibromatosis type 1: Quality of life of children and adolescents
Keywords:
diagnosis, history, neurofibromatosis type 1(NF1), quality of life, treatmentAbstract
Neurofibromatosis 1 (NF1) is a rare disease with worldwide impact. It is also known as von Recklinghausen disease and is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in the expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features is age-dependent. The average life expectancy of patients with NF1 is probably reduced by 10–15 years, and malignancy is the most common cause of death and there is no treatment found yet for NF1. The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined.
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