Neurofibromatosis

(von Reklinghausen disease)

Neurofibromatosis is an

Signs and Symptoms

*More than 6 café au late spots
*Multiple dermal tumors
*Pain, frequent headaches
*Many have learning disabilities, scoliosis, high blood pressure
There is no cure for NF. Treatment is aimed at controlling symptoms.

Depending on the type of disease and how bad it is, treatment may include

surgery to remove tumors, radiation therapy and medicines. Surgical removal

of tumors is usually only done to relieve life threatening tumors (compressing

airway or major vessels, etc)

Neurofibromatosis is a genetically inherited disorder (autosomal dominate) of the nervous system. It
mainly affects how nerve cells form and grow. These nerve cells replicate excessively throughout
the body forming tumors. The tumors may be benign (non-cancerous) or may cause serious bodily
damage by their location or compresssing nerves or other organs.

There are three types of neurofibromatosis:

 Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. (1 in 30,000
births)
 Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the
teen years. (1 in 45,000)
 Schwannomatosis causes intense pain. It is the rarest type.

NF affects roughly 100,000 individuals in the U.S. alone. It strikes people of all races and ethnic
origins worldwide, and both sexes, equally.
NF1 is characterized by pigmented spots on the
skin (café-au-lait spots) and tumors that develop
on nerves anywhere in the body. In some cases,
tumors can appear in the brain or spinal
cord. The disorder also can cause non-tumorous
complications such as learning disabilities – which
affect up to 60% of all individuals with NF1 – as
well as bone or skeletal abnormalities and certain
cardiovascular defects.
Neurofibromatosis 2 (NF2)
characterized by tumors on the
eighth cranial nerves of the brain – those that
control hearing. NF2 can result in hearing loss.
Additional features of NF2 can include other
brain tumors.

NF1 andthe majority of people

with NF1 lead healthy, productive lives. For many,
coping with the uncertainties surrounding NF1
presents a unique, yet conquerable challenge.
Disfigurement, and the fear of becoming disfigured
in the future, is often a major concern
for those with NF1.