Neurofibromatosis

Discussing the atrocities of a human disease

Common Names of Neurofibromatosis

  • Neurofibromatosis 1
  • NF1
  • Peripheral neurofibromatosis
  • Recklinghausen disease, Nerve
  • von Recklinghausen disease

Causes of Neurofibromatosis

The cause of neurofibromatosis, only occurs in an autosomal dominant pattern of inheritance. It also occurs in a mutation in the NF1 gene and its copy. In order for a tumor to form, 2 copies of the mutated NF1 gene must form.

Gene Affected in Neurofibromatosis

The gene that is affected is the NF1 gene, located in the nervous system. This gene produces proteins called neurofibromin that supressors tumors from forming anywhere in the body.

Prenatal Tests for Neurofibromatosis

Prenatal tests can be performed for neurofibromatosis by using amniocentesis or chorionic villus sampling (these substances are implanted into the uterus to detect mutations and/or abnormalities in a fetus).

Symptoms of Neurofibromatosis

  • Café-au-lait on the skin (brown spots)
  • Two or more neurofibromas (pea-sized bumps) that can grow on the nerve tissue or under the skin
  • Appearance of freckles on the underarm or groin)
  • Lisch nodules (tiny tan clumps of pigment in the iris)
  • Optic glioma (tumors along the optic nerve)
  • Scoliosis (severe curvature of spine)
  • Enlargement or abnormalities in the skeletal system

Population Affected by Neurofibromatosis

It is the most common neurological disorder, occuring in every 1 in 3,000 people born