Neurofibromatosis Symptoms & Diagnosis

Symptoms

NF1 and NF2 have different symptoms. With either type, the symptoms can range from mild to severe. In most cases, the symptoms are mild and may be overlooked.

Symptoms of NF1

Light brown spots (called café-au-lait spots) on the skin
Neurofibromas (tumors that grow on a nerve or nerve tissue)— rarely occur before puberty
Soft tumors, which may have a darker color
Freckles in the armpits or groin
Growths on the iris
Tumor on the optic nerve that may affect vision
Severe scoliosis (curved spine)
Deformed or enlarged bones other than the spine
Mild impairment of intellectual function, attention deficit disorder
Seizures

Most of these symptoms begin between birth and age 10.

Symptoms of NF2

Several tumors on the nerves of the brain and spine—Most common are tumors that affect the nerves to the ears. Hearing loss may begin as early as the teen years.
Other symptoms may include:
- Tinnitus (ringing in the ear)
- Poor balance
- Headaches
- Pain or numbness in the face

Diagnosis

The doctor will ask about your:

Symptoms
Medical history
Family medical history

The doctor will also do a physical exam. The diagnosis is generally made based on physical findings. Examples include:

Cafè-au-lait spot (main sign of NF)—Adults with six or more spots greater than 1.5 cm in diameter are likely to have NF.
Freckling in the armpits, groin, or underneath the breast in women
Multiple soft tumors apparent on the skin or deeper in the body viewed by radiologic testing (scans)
Soft nodules under the skin
Large infiltrating tumors under the skin, which can cause disfigurement and can progress to become malignant peripheral nerve sheath tumors
Pigmented, raised spots on the colored part of the eye

Tests for NF1 may include:

Exam by a doctor familiar with NF1 (eg, neurologist, geneticist, dermatologist)
Eye exam by an ophthalmologist familiar with NF1
Removal of neurofibromas for testing
Other specific tests associated with complications
MRI scan —a test that uses magnetic waves to make pictures of structures inside the brain
Genetic testing—available for families with a history of NF1 and NF2. Prenatal diagnosis may be possible with amniocentesis or chorionic villus sampling.