Neurofibromatosis type 1 (NF1)

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by skin pigmentation changes, benign tumors (neurofibromas) along nerves, and an increased risk of other cancers. Typically non-cancerous, it can manifest as single or plexiform tumours. Neurofibromatosis in children may lead to tumours on or under the skin. Types include intraneural (within nerves) and extraneural (pressing against nerves). Surgery is often the preferred treatment. Causes are unclear but may involve inherited conditions like neurofibromatosis and schwannomatosis, or genetic mutations. Symptoms vary based on tumour size, type, and location, ranging from numbness and weakness to paralysis and blindness. Localized neurofibromas, diffuse neurofibromas, and plexiform neurofibromas are the main types, each with distinct characteristics and age demographics.