Neurofibromatosis-1

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Neurofibroma

NF1; Von Recklinghausen neurofibromatosis

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

The diagnosis of neurofibromatosis is generally made based on physical findings. The cafe-au-lait spot (meaning literally the color of coffee with milk) 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 various scanning methods
• 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 skin lesions
• Other specific tests associated with complications
• Genetic testing that demonstrates a mutation in the neurofibromin gene

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.