[Neurofibromatosis type 1 --Recklinghausen's disease; pathogenesis and clinical symptoms]

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a common autosomal dominant disorder affecting 1 in 3000 individuals. The gene for NF1 is localized on chromosome 17q11.2. The gene mutations or the inactivation its protein product--neurofibromin are responsible for the manifestation of the disease. NF1 demonstrates a wide variability of clinical symptoms classified by NIH Consensus Conference in 1987.