Neurofibromatosis

Neurofibromatosis is a common disorder that is inherited in an autosomal dominant fashion. It is now known that this disease occurs in two major forms: von Recklinghausen neurofibromatosis (VRNF), which used to be called `peripheral neurofibromatosis', typically presents with café-au-lait spots; and cutaneous neurofibromas. Many other manifestations of the disease are found, including skeletal deformities, central nervous-system tumours, hydrocephalus, and mental retardation or learning disabilities. The incidence of VRNF is 1/3000 live births, but 50% of patients represent new mutations. Bilateral acoustic neurofibromatosis (BANF) is less common than VRNF but is important because of the associated tumours on the 8th cranial nerve. The care of patients with either form of neurofibromatosis requires the skills of a physician who is aware of the potential complications and who is empathetic to the psychological stresses which accompany this disease.