Neurofibromatosis type I

For Von Recklinghausen's disease of bone, a disorder seen with hyperparathyroidism, see osteitis fibrosa cystica.

Neurofibromatosis type 1
Other names
  • von Recklinghausen disease
  • morbus Recklinghausen
  • NF1
Main symptoms of neurofibromatosis type I.[1]
SpecialtyNeurosurgery, dermatology, ophthalmology
Usual onsetAt birth

Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1). NF-1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system that can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy (or allele) of the NF-1 gene is sufficient for the development of NF-1, although presentation varies widely and is often different even between relatives affected by NF-1.[2]

As of 2015, there are at least 100,000 people in the U.S. and about 25,000 people in the UK who have been diagnosed with NF. Common symptoms of NF-1 include brownish-red spots in the colored part of the eye called Lisch nodules, benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas, scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait spots and epilepsy. While some people have major complications, others with the condition can lead productive and full lives.

NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy). Due to its rarity, and to the fact that genetic diagnosis has been used only in recent years, in the past NF-1 was in some cases confused with Legius syndrome, another syndrome with vaguely similar symptoms, including cafe-au-lait spots.[3]

NF-1 is an age-specific disease; most signs of NF-1 are visible after birth (during infancy), but many symptoms of NF-1 occur as the person ages and has hormonal changes. NF-1 was formerly known as von Recklinghausen disease, after the researcher who first documented the disorder, Friedrich Daniel von Recklinghausen.[4]

The severity of NF-1 varies widely, and little is known about what causes a person to have more severe or less severe symptoms. Even within the same family (as there is a 50% chance that a parent will pass their condition to their offspring), levels of severity can vary enormously.[2]60% of people with NF-1 have mild cases, with few symptoms that have very little effect in their day-to-day lives. About 20% of people with NF-1 have what are considered moderate cases, with several symptoms that usually have a few cosmetic effects. The other 20% have severe cases, with several symptoms that affect the person's quality of life. Even in this last group, symptoms are rarely life-threatening.[5]

  1. ^ - Source for main symptoms: "Neurofibromatosis". Mayo Clinic. 2021-01-21.
    - Image by Mikael Häggström, MD, using source images by various authors.
  2. ^ a b Kunc V, Venkatramani H, Sabapathy SR (May 2019). "Neurofibromatosis 1 Diagnosed in Mother Only after a Follow-up of Her Daughter". Indian Journal of Plastic Surgery. 52 (2): 260. doi:10.1055/s-0039-1693503. PMC 6785427. PMID 31602150.
  3. ^ "About Neurofibromatosis – The University of Chicago Medicine". www.uchospitals.edu. Archived from the original on 2015-09-07. Retrieved 2015-10-27.
  4. ^ Costa RM, Silva AJ (August 2002). "Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1". Journal of Child Neurology. 17 (8): 622–626, discussion 626–9, 626–51. doi:10.1177/088307380201700813. PMID 12403561. S2CID 20385802.
  5. ^ "NF1 | Children's Tumor Foundation".