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Published online by Cambridge University Press: 21 November 2024
First called von Recklinghausen disease, named after German pathologist Friedrich Daniel von Recklinghausen in 1882, neurofibromatosis type 1 (NF1) is a genetic neurocutaneous condition, making up 96% of all cases of neurofibromatosis. With a loss of function mutation (50% are inherited, 50% de novo) of the neurofibromin 1 gene on chromosome 11, those with NF1 have nonfunctional neurofibromin, which functions in the mTOR and RAS/MAPK pathways as a tumor suppressor. Neurofibromatosis type 1 has an autosomal dominant inheritance pattern and has no gender predominance.
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