Neurofibromatosis: a guide to care in the community

Neurofibromatosis (Nf) comprises a group of conditions that cause benign tumours on the nervous system. It encompasses at least two distinct disorders, neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2). These two conditions differ genetically, but both pose complex health problems. The Nf1 gene was identified on chromosome 17 in 1990 and the Nf2 gene on chromosome 22 in 1992. If the genetic mutation is identified in an individual, genetic prenatal testing is possible. The genetic variability, the range of multisytem clinical features and the unpredictability of the disorder fill many people with fear and anxiety. Nf has significant impact on quality of life through alteration of the patient's health and appearance, and there is no doubt that it affects the lives of the patient's whole family. In the U.K., the charity The Neurofibromatosis Association (NfA) offers information and support for patients, families and health professionals and funds specialist advisers in regional genetics centres throughout the UK. Where specialist advisers are in post, a number of specialist Nf1 and Nf2 clinics have evolved. The role involves direct liaison with schools to provide guidance on educational problems, as well as responding to the needs of the individual and family.