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 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
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