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
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