Neurofibromotosis

Neurobromatosis

This disease is also known as, neurofibromatosis 1, NF1, Peripheral Neurofibmatosis, Recklinghausen Disease, Nerve, and Von Reckinghausen Disease.

Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people in the world, So this disease I very rare in many people.

The genes that are involved are mutations. This protein is produced in many cells, including never cells.



Mutations in NF1 gene cause neurofibromatosis.

People inherit this disorder by dominant pattern of inheritance. People with this condition are born with one mutation copy of the NF1 gene in each cell.

The symptoms of the disorder are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individuals grows older, freckles in the underarms and groin typically develop in childhood, blindness, pain (from affected nerves), Small, rubbery tumors of the skin.

 The kinds of medicine and treatment there is to deal with this disorder is there is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed fast as they may become cancerous.

The foundation that exist to raise money for this disease is The Human Genome Project(HGP) was completed in April 2003.