Neurofibromatosis Type 1 (NF1)

US News Best Children's Hospital NeurologyNeurofibromatosis type 1 (NF1) is a genetic disorder that can affect many organ systems (e.g., nerves, brain, skin, and skeleton). Most children with NF1 have multiple colored birthmarks (such as café au lait, or light brown, spots). Some children with NF1 develop neurofibromas, which are usually benign nerve tumors that can grow on the skin. Individuals with NF1 are at risk for a variety of tumors and other manifestations.

Lucile Packard Children’s Hospital Stanford has a multidisciplinary team of doctors dedicated to diagnosing, counseling, and treating children with NF. Most children visiting the Neurofibromatosis Center are referred by their pediatricians, who have noticed an abundance of the telltale café au lait birthmarks on their patients’ bodies, raising concerns that they may have neurofibromatosis type 1. The center’s team uses genetic testing methods that can help families zero in on an accurate diagnosis, understand and process it, and then navigate the best path forward. Often that path is restricted to constant observation and periodic check-ins. Sometimes, it requires imaging and/or more extensive genetic testing and analysis. And, if the path includes surgery, chemotherapy, or medical interventions, the team is well prepared for that, too. The majority of patients seen here, however, don’t need invasive treatment.