[Neurofibromatosis type I in Norway. A clinical prevalence study based on a small project]

Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder that mainly affects the skin, the nervous system and the skeleton. An incidence of 1:4,000 gives approximately 1,100 patients in Norway. At Frambu we concluded a model project for three years to achieve better care from the medical, psychosocial and educational aspects. We also included a prevalence study of symptoms and complications in 129 patients. We found a complication rate remarkably like that found in previous prevalence studies, despite the fact that many of our patients were ascertained to be relatives of affected children, and were undiagnosed until the child was examined. Our project showed that, because neurofibromatosis is a multifaceted disorder, a team approach involving health-workers and teachers is needed for better care of affected children.