Treatment

There is no real cure or medicine for Neurofibromatosis, the only therapy for patients with this disorder is a program of treatment to manage symptoms or complications. Surgery might be needed when the tumors compress organs or other structures. But, chemotherapy may be successful, since less than 10% of people with neurofibromatosis develop cancerous growth cells.

some interesting facts about Neurofibromatosis

NF 1 is most common in about 90% of cases. It has a disorder frequency of 1 in 3,000 making it more common than NF 2, with a frequency of 1 in 45,000. Neurofibromatosis occurs following the mutation of neurofibromin on chromosome 17q11.2. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein.

Inheritance of genetics:

NF-1 and NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation. An unaffected parent will have a 50-100% chance of inheriting the disorder, if one parent has NF-1 or NF-2 and one is not affected. Also children with NF-1 have 200-500 times the normal risk of developing leukemia compared to the general population.

symptoms of Neurofibromatosis

A large cluster of tumors under the skin.

Freckling of the groin or the arm pit.

Pigmented, light brown macules located on nerves, with smooth edges.

Skeletal abnormalities, or thinning of the cortex of the long bones of the body.

Freckling in the iris.

Tumors on the optic nerve.

And seizures.

Also, macrocephaly in 30-50% of the pediatric population without any hydrocephalus.

Biology

Biology class