Neurofibromatosis Type I (NF1)

Neurofibromatosis Type I (NF1) is a genetic disorder that primarily affects the nervous system and skin. It causes the growth of multiple benign tumors called neurofibromas on nerves throughout the body. People with NF1 often have distinctive café-au-lait spots, which are flat, pigmented skin patches. The condition can also lead to bone deformities and learning difficulties. NF1 is caused by changes in a gene that normally helps control cell growth, leading to abnormal tissue development.

Neurofibromatosis Type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, which encodes the tumor suppressor protein neurofibromin. Loss of neurofibromin function results in increased RAS pathway activity, promoting uncontrolled cell proliferation and tumor formation. The disease is characterized by multiple cutaneous neurofibromas, plexiform neurofibromas, and café-au-lait macules. Other features include Lisch nodules (iris hamartomas), skeletal abnormalities such as sphenoid wing dysplasia, and increased risk of malignant peripheral nerve sheath tumors. NF1 has variable expressivity and can affect multiple organ systems, with significant morbidity related to tumor burden and neurological complications.