neurofibromatosis
Pronunciation: new-roh-figh-broh-muh-TOH-sis
A group of genetic disorders causing tumors to grow along nerves and affecting skin pigmentation. The most common types are NF1 and NF2, each with distinct clinical features.
Full Definition
Neurofibromatosis comprises a group of autosomal dominant genetic disorders characterized by the growth of tumors along nerves and various other clinical manifestations affecting skin, bones, and other organ systems. The two main types are neurofibromatosis type 1 (NF1, von Recklinghausen disease) caused by mutations in the NF1 gene, and neurofibromatosis type 2 (NF2) caused by NF2 gene mutations. NF1 is more common and features café-au-lait spots, neurofibromas, Lisch nodules, and potential complications including malignant transformation, learning disabilities, and skeletal abnormalities. NF2 primarily affects the nervous system with bilateral acoustic neuromas (schwannomas), meningiomas, and other central nervous system tumors. Both conditions require multidisciplinary management including regular surveillance for tumor development and screening for associated complications.
Usage
Usage note: Specify type (NF1 or NF2) when known. Avoid outdated term 'elephant man disease.'
In Context
- "Genetic testing confirmed neurofibromatosis type 1 in this patient with multiple café-au-lait spots and neurofibromas." — Genetics consultation report
- "MRI surveillance revealed new schwannomas consistent with the patient's neurofibromatosis type 2 diagnosis." — Neuro-oncology follow-up note