What Is Neurofibromatosis?

NF is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body at any time.

NF is not a rare disorder, it is the most common neurological disorder caused by a single gene.

NF has been classified into three distinct types: NF1, NF2, and Schwannomatosis.

Both forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new spontaneous mutation (change in the sperm or egg cell).

The Neurofibromatoses are genetically-determined disorders which affect more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington’s Disease and Tay Sachs combined.

NF is worldwide in distribution and affects both sexes equally and has no particular racial, geographic, or ethnic distribution. Therefore, NF can appear in any family.

The mortality rate for people with NF is higher than that of the healthy population because of the increased potential for malignant transformation of diseased tissues and the development of neurofibrosarcoma.

NF is not the "Elephant’s Man Disease", although it was at one time believed to be. Scientists now believe that John Merrick, the so-called "Elephant Man", had Proteus Syndrome, an entirely different disorder.

Neurofibromatosis is often diagnosed because of unusual pigmentary patterns. Cafe au lait spots are irregularly shaped, evenly pigmented, brown macules.

Endocronologic problems associated with neurofibromatosis are common. Short stature and growth hormone deficiency are more common in these patients than in the general population, although the exact incidence is not known.

50% of all cases of NF1 and NF2 are inherited from a parent who has NF1 or NF2.

50% of all cases of NF1 and NF2 are not inherited, but the result of a new or spontaneous mutation in the sperm or egg cell.

Each child of an affected parent has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent, although the severity of the manifestations mat differ from person to person within a family.

Von Recklinghausen’s Disease

Neurofibromatosis was first reported by Dr. Friedrich von Recklinghausen in 1882. As a result, Neurofibromatosis was known as Von Recklinghausen’s disease for many years. The term is rarely used today, but refers to NF1.


from the Greek word ‘phakos’, meaning birthmark) Refers to several disorders, including NF, characterized by benign skin lesions and neurological disorders.


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