Neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disorder that primarily affects the nervous system, skin, and bones. It is caused by mutations in the NF1 gene, which is responsible for producing a protein that helps regulate cell growth. People with NF1 often develop benign tumors called neurofibromas on or under the skin, as well as other symptoms like café-au-lait spots, freckling in unusual areas, and learning disabilities.
The condition is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from an affected parent can cause the disorder in their child. NF1 affects both genders equally and occurs in approximately 1 in 3,000 births. Regular monitoring and management of symptoms are essential for those living with NF1.