Etymed
neurofibromatosis
Definition
A genetic disorder characterized by the development of benign tumors (neurofibromas) along nerves and the growth of abnormal tissue in the nervous system
Clinical context
A 25-year-old woman presents with multiple café-au-lait spots on her skin and a palpable mass in her left arm. She reports episodes of severe headaches and numbness in her hand. Physical examination reveals several light brown macules on her trunk and extremities. MRI of the brain shows multiple enhancing lesions along cranial nerves. Genetic testing confirms mutations in the NF1 gene. This patient has neurofibromatosis type 1, a condition that predisposes to benign tumors of the nervous system.
Mnemonic
NF1 = Neurofibromas, Freckles, and Fibromas - 'Nervous system tumors with cafe-au-lait spots'