NEUROFIBROMATOSIS DEFINITION

Neurofibromatosis (NF), or von Recklinghausen disease, is a genetic disease in which patients develop multiple soft tumors (neurofibromas). These tumors occur under the skin and throughout the nervous system.

Neural crest cells are primitive cells which exist during fetal development. These cells eventually turn into:

• cells which form nerves throughout the brain, spinal cord, and body,
• cells which serve as coverings around the nerves that course through the body,
• pigment cells, which provide color to structures,
• the meninges, the thin, membranous coverings of the brain and spinal cord,
• cells which ultimately develop into the bony structures of the head and neck,

In neurofibromatosis, a genetic defect causes these neural crest cells to develop abnormally. This results in numerous tumors and malformations of the nerves, bones, and skin.

Neurofibromatosis occurs in about one of every 4,000 births. Two types of NF exist, NF-1 (90% of all cases), and NF-2 (10% of all cases).