, commonly known as Neurofibromatosis (NF), is an
inheritable genetic disorder. It is caused by mutations in NF1 or NF2 gene.
There are three forms of Von Recklinghausen’s Disease:
Neurofibromatosis type-1 or NF1, neurofibromatosis type-2 (NF2) and
Schwannomatosis, classified as a variant of NF2.
Neurofibromatosis (NF) is autosomal dominant genetic
disease, wherein you need to inherit an abnormal / diseased gene from
only one parent to get the disease. The disease derives its name from the German
pathologist Friedrich Daniel von Recklinghausen who first described the
condition in 1882.
Patients with Neurofibromatosis develop
multiple soft nerve-tumors (neurofibromas
and very often skin spots (café au lait spots). The disease can cause bones
deformities and also affect the skin.
Although an autosomal
dominant disease, approximately 50% of the cases reported are clinically
sporadic. Thus a large number of cases of Neurofibromatosis
NF) are due to a spontaneous mutation, i.e. a change in a
person's gene rather than a mutation inherited from a parent. NF has a
prevalence of 1 in 3000 births.