Neurofibromatosis Type 1 Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Neurofibromatosis type 1 (NF 1), also known as von Reclinghausen’s disease, is one of the types of nerve fiber tumors. This disorder is an abnormality caused by a gene mutation on chromosome 17 that affects the growth and development of the nerve network.
Neurofibromatosis is divided into two types, namely: NF1 and NF2. The occurrence of NF2 occurs more rarely than NF1. Neurofibromatosis type 1 is found in one case in 2,500-3,000 births. Whereas NF2 is rarely found, even possibly only one case in 50,000–120,000 births.
These tumors can be small or large and can appear anywhere in the body – such as the brain, spinal cord, nerves, and large or small nerves.
Cause
Just like tumors in general, neurofibromatosis type 1 is also caused by abnormalities or mutations in genes. The cause of NF1 is a microdeletion on chromosome 17 that encodes the neurofibromin protein. This mutation causes abnormal growth of nerve cells.
Diagnosis
A prenatal examination can be done to see the presence of neurofibromatosis type 1 (NF 1) in the fetus. Chorionic villus sampling or amniocentesis can be done to detect NF1 in the fetus. People with NF1 have a 50% chance of passing the disorder on to their children.
To determine the diagnosis of NF1 is enough with clinical symptoms, in most cases laboratory tests are not required. Diagnostic criteria for NF1 are based on the findings of two of the seven criteria published by The National Institutes of Health (1987).
Symptoms
There are several symptoms of neurofibromatosis type 1 (NF 1). The characteristics of NF sufferers are:
- Brown spots on the skin. Brown spots called ‘café-au-lait’ on the skin. Skin lesions usually exceed 15 mm in diameter and there are usually at least five.
These symptoms are usually seen since childhood. If these spots are accompanied by a tumor on the skin or under the skin, and a Lisch nodule, which is a very small benign tumor in the iris (the black part of the eye), then it can be confirmed that the person suffers from NF, because Lisch nodules will only be present in NF patients.
- Bone disorders can also be seen in the presence of thinning or abnormal growth of the bones of the arms and legs, or deformities in the spine.
- Developmental disorders, learning disorders or mental retardation.
- Brain tumor.
- Peripheral nerve tumors. NF 1 patients have the potential to experience Malignant Peripheral Nerve Sheath Tumor (MPNST), which is a malignant tumor that grows in the nerve sheath.
Treatment
There is no specific therapy that can prevent the development of neurofibromatosis type 1 (NF 1). However, proper handling can lower the risk of further complications. The treatment of NF1 requires the cooperation of various scientific disciplines to slow down the progression of the disease, and detection of the involvement of other organs and skin tissue. Skin tumors can be removed through surgical excision, electrocautery, or laser ablation.
Prevention
There is no specific prevention for neurofibromatosis type 1 (NF 1).