Nerves from the brain (cranial nerves) and spinal cord (spinal root nerves)
NF1; Von Recklinghausen neurofibromatosis
NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease.
NF1 also appears in families with no history of the condition. In these cases, it is caused by a new gene change (mutation) in the sperm or egg. NF1 is caused by problems with a gene for a protein called neurofibromin.
Neurofibromatosis causes tissue along the nerves to grow uncontrollably. This growth can put pressure on affected nerves.
If the growths are in the skin, there are no major symptoms. If the growths are in other nerves or parts of the body, they can cause pain, severe nerve damage, and loss of function in the area the nerve affects. Problems with feeling or movement can occur, depending on which nerves are affected.
The condition can be very different from person to person, even among people in the same family who have the same NF1 gene change.
"Coffee-with-milk" (cafe-au-lait) spots are the hallmark symptom of neurofibromatosis. Many healthy people have 1 or 2 small cafe-au-lait spots. However, adults who have six or more spots that are bigger than 1.5 cm in diameter (0.5 cm in children) could have neurofibromatosis. In some people with the condition, these spots may be the only symptom.
There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.
Some children with learning disorders may need special schooling.
You notice coffee-with-milk colored spots on your child's skin or any other symptoms of this condition.
You have a family history of neurofibromatosis and are planning to have children, or you would like to have your child examined.
Genetic counseling is recommended for anyone with a family history of neurofibromatosis.
Annual eye, skin, back, nervous system (neurological) exams, and blood pressure monitoring are strongly recommended.
Friedman JM. Neurofibromatosis 1. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle; 1998.
Sahin M. Neurocutaneous Syndromes. In: Kliegman RM, Stanton BF, St. Geme J, et al, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 589.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.