Neurofibromatosis type 1
Tumors develop along your nerves due to the hereditary disorder neurofibromatosis type 1 (NF1). These tumors can cause various symptoms even though they are often benign (noncancerous).
Neurofibromatosis type 1 symptoms
NF1 is a genetic disorder that affects one at birth, though specific symptoms take years to manifest. Depending on the individual, the condition’s severity might vary considerably.
The skin is typically affected, leading to symptoms like:
- Birthmarks called “café au lait spots,” which are light- or dark-brown patches that can appear anywhere on the body
- Skin-surface or subcutaneous soft, noncancerous tumors (neurofibromas)
- Clusters of freckles in odd locations, including the crotch, under the breast, or the armpit
- Skeletal, optical, and neurological system issues
Neurofibromatosis type 1 causes
A malfunctioning gene is the root cause of neurofibromatosis type 2 (NF2). Neurological systems can generate uncontrolled growth (tumors) if the NF2 gene is defective.
A parent passes on a defective gene to their child in 50% of cases of NF2. For a child to be at risk of having the disorder, only one of their parents needed to have the defective gene.
Every child has a one in two risks of developing NF2 if the mother or father carries the defective gene.
In some situations, the defective gene seems to arise on its own. The cause of this is unknown.
Recognizing type 1 neurofibromatosis
Adults and older children can typically have NF2 diagnosed quickly by looking for common symptoms.
Babies who exhibit NF2 symptoms from birth may be diagnosed with it. Additional testing, such as scans, hearing, sight, or blood tests, may be advised if NF2 is suspected.
Before starting a family, couples with a history of NF2 may want to consider alternatives.
That could involve:
- Conceiving a child using donor sperm or eggs
- Adopting a child
- Undergoing a prenatal test to determine whether the baby will have NF2—either chorionic villus sampling or amniocentesis
- Genetic testing before implantation
Treatment for type 1 neurofibromatosis
NF1 currently has no known treatment. Regular monitoring and problem-solving are part of the treatment.
Treatment options include:
- Removing tumors and treating bone issues through Surgery
- Medicine – to treat underlying diseases like high blood pressure
- Physiotherapy
- Psychological aid
- Pain management
People with NF1 can lead whole lives with the support of careful monitoring and therapy. However, there is a chance of having significant issues, such as specific cancers, which can shorten life expectancy.
Reviewed by – Dr. Priyanka, MBBS MD Microbiology
Page last reviewed: 04 October 2022