Von Recklinghausen's Disease / Neurofibromatosis Type 1

About

Von Recklinghausen's disease, 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.