General Information About Neurofibromatosis
Disease Details and Frequently Asked Questions
It is a genetic disorder where numerous tumors (neurofibromas) develop in the sheaths surrounding the brain, spinal cord, and peripheral nerves as a result of mutations in genes that control cell growth.
NF1: It begins with café-au-lait spots on the skin and soft lumps under the skin, noticed during childhood.
NF2: It is rarer, forming tumors on the balance and auditory nerves (acoustic neuroma), typically manifesting in young adulthood with hearing loss.
It is the earliest and most typical sign of NF1. These are flat skin lesions of a light brown (milk-and-coffee) color with smooth borders located on various parts of the body. If a child has 6 or more of these spots, a suspicion of NF arises.
The vast majority (95%) of neurofibromas forming around nerves are benign. However, when these tumors grow very large, they can compress nerves and cause paralysis, or very rarely transform into malignant cancers.
A clinical evaluation of skin spots, freckling (axillary freckling), and Lisch nodules (spots in the iris of the eye) by a specialist physician is fundamental. Definitive diagnosis is established via genetic DNA tests examining the NF genes (NF1/NF2).
There is no cure that corrects the genetic mutation. The goal of treatment is to resolve the problems caused by the tumors. Tumors that cause pain, impair aesthetics, or compress nerves are removed surgically or via laser. In recent years, tumor-shrinking MEK inhibitor medications (Selumetinib) have entered clinical use.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
