Neurofibromatosis-1
Key points
- Neurofibromatosis-1 is an inherited disorder characterized by formation of neurofibromas (tumors involving nerve tissue) in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves.
- NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of inheriting the disease.
- Symptoms can be extremely varied, depending on the age of the patient and severity of the disease.
- The diagnosis of neurofibromatosis is generally made based on physical findings.
Alternative names
NF1; von Recklinghausen neurofibromatosis
Definition
Neurofibromatosis-1 is an inherited disorder characterized by formation of neurofibromas (tumors involving nerve tissue) in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves.
Causes, incidence, and risk factors
NF1 is an autosomal dominant trait, meaning that if either parent has NF1, their children have a 50% chance of inheriting the disease. NF1 also appears in families with no previous history of the condition, as a result of a new genetic mutation in the particular sperm or egg that created the child. NF1 is caused by abnormalities in one of the genes encoding a protein called neurofibromin.
Neurofibromatosis causes unchecked growth of neurofibromatous tissue in nerves, which can put pressure on affected nerves and cause pain and severe nerve damage. This leads to loss of function in the area served by the nerve. Problems with sensation or movement can occur as a result, depending on the particular nerves affected.
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)
Written and revised by
Andrey Nailor, M.D.
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