Home > Encyclopedia of Medicine > 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.

Description

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...