Neurofibromatosis

Neurofibromatosis is an autosomal dominant genetic disorder originating from neuroepithelial tissue, often affecting the central nervous system, and is a type of neurocutaneous syndrome. The incidence rate is approximately 1/2500 to 1/3000. It can occur at any age, with one-third of patients developing the disease before the age of 13. It is more common in males than females, and maternal inheritance is more frequent than paternal inheritance. Clinical classifications are as follows: Neurofibromatosis type 1 (NF1, classic neurofibromatosis): This is the most common type, accounting for over 90% of cases. Patients develop multiple neurofibromas, ranging from millimeters to several centimeters in size, along with numerous widely distributed café-au-lait spots and freckles. Neurological damage may also be present. Neurofibromatosis type 2 (NF2, central or acoustic neurofibromatosis): Characterized by bilateral acoustic neuromas.