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Neurofibromatosis

The neurofibromatoses are a group of conditions characterized by the growth of benign nerve tumors. There are three distinct types of neurofibromatosis:

  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Schwannomatosis

These conditions are differentiated primarily by the types and locations of nerve tumors, but also by findings in the eyes and skin. The most common is Neurfibromatosis Type 1 (NF1), which is characterized by coffee colored spots on the skin and nerve tumors called neurofibromas that can develop on the skin and nerves throughout the body.

Neurofibromatosis Type 2 (NF2) is associated with nerve tumors of the brain and spine, and is particularly differentiated by neuromas of the acoustic nerve that can cause hearing loss. The final type of neurofibromatosis is called schwannomatosis and is characterized by the development of multiple schwannomas that can occur throughout the body.

Penn medical genetics has been designated a Neurofibromatosis Clinic Network Affiliate Clinic by the Children's Tumor Foundation. Patients of all ages and with all types of neurofibromatosis receive comprehensive health care through collaboration of clinicians at the Children's Hospital of Philadelphia and the Hospital of the University of Pennsylvania who have special experience in neurofibromatosis.