Alternate Names: NF1; vonRecklinghausen neurofibromatosis

Causes and Risks: NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of having the disease. NF1 may also appear in a family with no previous history as a new mutation. NF1 is due to mutations or abnormalities in one of the genes encoding a protein called neurofibromin.

Neurofibromatosis causes unchecked growth of neurofibromatous tissue in nerves such as the optic nerve, and it can cause severe nerve damage (leading to loss of function to the area stimulated by that nerve).

Prevention: Genetic counseling is recommended for anyone with a family history of neurofibromatosis.

Symptoms: Symptoms can be extremely varied, depending on the age of the patient and severity of the disease.

Some symptoms may include:

• Mild impairment of intellectual function, attention deficity disorder
• Fracture of the long bones of the leg in early childhood
• 'Coffee with milk' (cafe-au-lait) spots on the skin
• Freckles in the underarm or groin
• Convulsions
• Pain (associated with affected peripheral nerves)
• Blindness

Signs and Tests: The diagnosis of neurofibromatosis is generally made based on physical findings. The cafe-au-lait spot (meaning literally the color of coffee with cream) is the hallmark of neurofibromatosis. Although many people have 1 or 2 small cafe-au-lait spots, people with 6 or more spots greater than 1.5 cm in diameter are considered to have neurofibromatosis.

Other signs include:

• Freckling in the armpits (axilla)
• Multiple soft tumors apparent on the skin or deeper in the body by radiologic testing (scans)
• Soft nodules under the skin
• Large infiltrating tumors under the skin (plexiform neurofibromas) which can cause disfigurement
• Pigmented, raised spots on the colored part (iris) of the eye (Lisch nodules)

• Examination by a doctor familiar with NF1, such as a neurologist, geneticist or dermatologist
• Eye exam by an ophthalmologist familiar with NF1
• MRI of the affected site
• Removal of neurofibromas of skin lesions
• Black light test
• Other specific tests associated with complications

Treatment:

There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function are removed on an individual basis. Tumors that have grown rapidly should be removed promptly as they may become malignant.

Attention to the special schooling needs of the intellectually handicapped may be appropriate in some instances. Annual eye exams are strongly recommended.

Prognosis:

The life expectancy of people with neurofibromatosis is almost normal barring complications. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder in a minority of patients.

With appropriate education and job expectations, people with Neurofibromatosis can live a normal life. Some individuals manifest hundreds of tumors on their skin and are subject to stigmatization by society.

Complications:

• Blindness from tumor in optic nerve (optic glioma)
• Malignant transformation of tumors in approximately 10% of affected individuals
• Increased incidence of pheochromocytoma which causes very high blood pressure
• Loss of nerve function in nerves where a neurofibroma's growth has caused prolonged pressure on the nerve
• Attention deficit hyperactivity disorder (ADHD)

Call your health care provider if you notice cream-with-coffee colored spots on your child’s skin or any of the signs listed here; or if you have a family history of neurofibromatosis and would like your child examined. Also call if anyone in your family has a neurofibroma removed.