Management and treatment of complex neurofibromatosis 1

Abstract

Neurofibromatosis 1 (NF1) is a common inherited tumour predisposition disease that involves the skin, bone and nervous system predominantly. The clinical manifestations are variable and affect many of the body systems. Individuals with NF1 are at risk of rare complications-complex NF1-that cause significant morbidity and may be life-threatening. They range from unusual NF1 subtypes, facial disfigurement due to plexiform neurofibromas and bone dysplasia to peripheral and central nervous system disease including neuropathy, malignancy, neuro-inflammation, seizures and neurovascular disease. Individuals with complex NF1 require management and ongoing care from a specialist multidisciplinary team. In April 2009, The National Specialist Commissioning Group designated Guy's and St. Thomas' NHS Foundation Trust and Central Manchester University Hospitals Foundation Trust as national centres for the diagnosis and management of people with Complex NF1 in England. The national centres work in partnership with the local clinicians, allied health professionals, lay groups and patients to provide the optimum diagnosis, surveillance and treatment of individuals with Complex NF1. The centres aim to standardise clinical care and formulate outcome measures to evaluate surgical and medical intervention. Above all, the clinicians and nurses strive to provide a knowledgeable and supportive resource for patients and their families.