WHAT IS NEUROFIBROMATOSIS?

Genetic

Neurofibromatosis is a genetic disorder of the nervous system or multisystem genetic disorder that is characterized by cutaneous findings, most notably café-au-lait spots and axillary frecklin.It mainly affects how nerve cells form and grow by causing tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

There are three types of neurofibromatosis:
Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth (image below)

Other symptoms include:

Type 1 can cause bone deformities, learning disabilities and high blood pressure. Type 2 can cause hearing loss, vision loss and difficulty with balance. Type 3 can cause chronic pain throughout the body.

People may experience:
Pain areas: in the face
Pain types: can be chronic
Skin: brown spot on skin, armpit freckles, or lumps
Developmental: learning disability or short stature
Whole body: balance disorder or high blood pressure
Sensory: hearing loss or pins and needles
Also common: attention-deficit/hyperactivity disorder, bone deformities, enlarged head, ringing in the ears, scoliosis, seizures, or vision disorder

Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.(Image below)

                     WHAT ARE THE CURE?

Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.

               IS NEUROFIBROMATOSIS LIFE                                          THREATNING?

In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening. NF1 can lead to problems within various systems, organs and functions of the body including: Skin, bone and eye abnormalities.