Types of Neurofibromatosis

Neurofibromatosis can be divided into two types. The two kinds are Neurofibromatosis 1, which is also known as Von Recklinghausen Neurofibromatosis and Neurofibromatosis 2.

Neurofibromatosis 1 is one of the most frequent disorders that affect human being. Approximately 1 in 3000 births is affected with the condition. The hallmark of the condition is abnormal pigmentation in the skin and iris hamartomas also known as lisch nodules. The benign neurofibromas can disfigure the body to a great extent. It has been seen that about 5% of the patient in NF1 case tend to develop malignant peripheral nerve tumors, which are mostly fatal.

The NF1 patient also show increase risk of other kinds of tumors like the Gliomas of the optic nerve, astrocytomas and other myeloid disorders. Apart from this NF1 patient also suffers from learning disabilities and other abnormality in the Skelton. The condition arises from the inactivating mutation in the tumor suppressing gene. This tumor suppressing gene is found in the chromosome 17q which instructs the neurofibromin and a subsequently large protein with RasGTPase which then activates the domain and finally regulates the signal transduction.

Neurofibromatosis 1 is inherited in the autosomal governing way and happens due to the mutation of NF1 gene. It can be characterized with spots on the skin, multiple benign tumors on the skin and plexiform neurofibromas. One can see freckles in the armpit and in the groin region. With age the spots increase in number and size. Approximately 97% of people have more than 6 spots by the age of 20. It has been seen that the skin neurofibromas emerge later and mostly in the late or early twenties of life.

It also has been observed that patients suffering from type NF1 kind of condition are also at the risk of scoliosis, seizure related problem, along with disability in learning and optic Gliomas. The degeneration of malignant neurofibromas is under 5%.