Neurofibromatosis Type 1 (NF1) is a genetic disorder affecting nerve tissue, skin, and bones. It's characterized by the growth of tumors called neurofibromas, which can appear on or under the skin, as well as in other parts of the body. Cafe-au-lait spots, flat, brown birthmarks, are another common sign.
NF1 is caused by a mutation in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth, and its absence can lead to uncontrolled cell division and tumor formation.
While there's no cure for NF1, management focuses on monitoring and treating symptoms. Regular check-ups, imaging, and, in some cases, surgery or medication can help manage complications. Early diagnosis and intervention are key to improving the quality of life for individuals with NF1. Research continues to explore new treatments and therapies for this complex condition.
