Neurofibromatosis is classified as a neurocutaneous syndrome, resulting from developmental abnormalities of ectodermal tissue during the 2nd to 4th month of embryonic development. It is an autosomal dominant genetic disorder primarily involving the skin, peripheral nerves, and central nervous system. Based on different genetic mutations, neurofibromatosis is divided into two subtypes: neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2). Diagnosis is primarily based on clinical manifestations.
NF1 is characterized by features such as café-au-lait spots on the skin, axillary or inguinal freckling, optic nerve gliomas, and iris hamartomas. NF2 is typically associated with bilateral vestibular schwannomas, often accompanied by multiple meningiomas, schwannomas, gliomas, neurofibromas, and posterior subcapsular lens opacities.
Surgical intervention is the main treatment approach and focuses on removing key tumors to alleviate clinical symptoms. Emerging treatments involve targeted therapy selected based on genetic testing.