type 1 neurofibromatosis
Type 1 neurofibromatosis (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 and freckling in unusual areas.
The condition is usually diagnosed in childhood or early adulthood and can vary widely in severity. While some individuals may have mild symptoms, others may experience more significant complications, such as learning disabilities or skeletal abnormalities. Regular monitoring and management by healthcare professionals are essential for those with NF1.