NF1 can worsen with time, resulting in new growths over the body that cause major psychological and cosmetic issues. Regular screening is crucial
Neurofibromatosis type 1 (NF1) is also referred to as Von Recklinghausen's disease, Von Recklinghausen neurofibromatosis, and peripheral NF.
Unfortunately, NF1 can worsen with time, resulting in new growths over the body that cause major psychological and cosmetic issues. The good news is that many of the symptoms can be screened and managed, and people can have an almost normal life expectancy, provided they follow up regularly to check for the development of any malignancies.
NF1 is the most common type of neurofibromatosis that affects 1 in every 3,000 births. It is frequently associated with bone, hormone, and other issues. Symptoms often develop at birth or before a child reaches 10 years of age.
Not everyone with NF1 develops cancer. Adults may develop more neurofibromas (noncancerous growths) as they grow, but it is estimated that 3%-5% of adults may develop more cancerous tumors such as plexiform neurofibromas or neurofibromas under the skin.
What are the symptoms of NF1?
Symptoms of neurofibromatosis type 1 include:
- Café au lait spots (pale or coffee-colored patches over the torso)
- Freckles in the underarm and groin
- Neurofibromas
- Lisch nodules (small freckles within the iris)
- Headache (more common in children)
- Learning impairment in school-aged children
- Increased blood pressure
- Scoliosis (abnormal curvature of the spine)
- Benign tumors on the nerves
- Tumors of the eye such as gliomas
- Seizures and epilepsy
- Tumors of the spine and brain that are typically benign
- Growths all over body that cause cosmetic problems
What causes NF1?
NF1 is caused by impairment in a gene that is responsible for a protein called neurofibromin. NF1 leads to the formation of noncancerous nerve and skin tumors (neurofibromas) and patches of aberrant skin color (pigmentation) that include pale tan or light brown discolorations (café au lait patches) and freckling in unusual areas such as beneath the arms or in the groin. Such skin pigmentation anomalies are frequently visible by one year of life and tend to grow in size and quantity over time.
NF1 is a hereditary disease, and one in every two children with NF1 inherits the disease from an NF1 parent. Even if one parent carries the gene for NF1, it can be passed to all their children, and each has a 50% chance of developing the disease. Such a transmission is called an autosomal dominant mode of disease transmission.
However, there are cases where children develop NF1 due to genetic mutation (alteration in the gene) in the sperm or egg. A child with such mutations may pass it down to the next generation.
How is NF1 diagnosed?
Neurofibromatosis type 1 is diagnosed via:
- DNA analysis for the defective gene
- Physical examination for café au lait spots, freckles, and neurofibromas
- Ophthalmic examination
- Magnetic resonance imaging
- X-rays
How is NF1 treated?
Neurofibromatosis type 1 is a genetic disease, and unfortunately, there is no definitive cure for it. However, a child may be given symptomatic treatment and other supportive treatments for the following:
- Learning difficulties (psychiatric counseling and rehabilitation)
- High blood pressure (medications and lifestyle changes)
- Formation of new tumors (surgical removal)
- Back bone problem such as scoliosis (orthopedic surgeries and physiotherapy)
- Ocular problems (semiannual ocular screening and visual aids/surgeries)
Regular medical check-ups should be done to look for possible signs of the disease.