Neurofibromatosis-1

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Neurofibroma

Overview

Symptoms

Treatment

Prevention

Neurofibromatosis-1

Alternative Names:

NF1; Von Recklinghausen neurofibromatosis

Symptoms:

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

Symptoms may include:

Mild impairment of intellectual function, attention deficit 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
Rubbery tumors of the skin called nodular neurofibromas
Soft tumors called plexiform neurofibromas which may have a darker color

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 healthy people have 1 or 2 small cafe-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis.

Other signs include:

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 (plexiform neurofibromas) which can cause disfigurement
Pigmented, raised spots on the colored part (iris) of the eye (Lisch nodules)

Tests may include:

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 skin lesions
Other specific tests associated with complications
Genetic testing that demonstrates a mutation in the neurofibromin gene

Review Date: 7/26/2004
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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