Neurofibromatosis is a genetic disorder where tumor formation occurs in the nerve tissues. This disorder mainly targets the growth and development of the nerve cell tissues. Neurofibromas are of two types: Neurofibromatosis type 1 and neurofibromatosis type 2.
Additionally, another type called Schwannomatosis has been identified lately and is rarer than the previous types. Neurofibromatosis type 1 is also known as Recklinghausen disease or von Recklinghausen neurofibromatosis.
What are the causes of Neurofibromatosis type 1?
Mostly, neurofibromatosis passes from one generation to the next. Moreover, about 50% of the people have been diagnosed with the genetic disorder having no family history of this condition. It may be due to the unexpected variation in the genes.
NF1 is caused because of a mutation in the gene leading to uncontrolled division of cells in the nervous system. The gene present on chromosome 17 makes a protein called neurofibromin that controls cell development.
A mutation of this gene causes neurofibromin loss and makes uncontrolled cell division and growth. Without neurofibromin working fully, the cells can’t control the RAS pathway. It eventually leads to the formation of tumors. Moreover, if one parent has the mutated gene, there is a high chance the child will develop NF1.
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What are the symptoms of Neurofibromatosis Type 1?
The following signs and symptoms appear in individuals suffering from NF1.
- Freckles in the armpit or groin area.
- Deformities in bones such as twisted spine and bowed legs.
- Nerve-related pain.
- Osteoporosis
- Short stature
- High blood pressure
How is Neurofibromatosis Type 1 Diagnosed?
Patients with NF1 undergo a comprehensive examination each year, including:
- A detailed physical examination
- X rays
- An eye test as well as a complete exam for both eyes
- Genetic testing
- Family history and medical history
- Bone assessment to check for problems such as vitamin D deficiency
- Blood pressure examinations
Some health problems such as learning difficulties and speech problems are also associated with NF1. Furthermore, it is related to cancer called malignant peripheral nerve sheath tumors.
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What Treatments Exist for Neurofibromatosis Type 1?
Now the real question is, is there any cure or treatment for NF1? Even after the advancements in medicinal science, there is no cure for NF1. But, there are a few treatments that reduce the risk of potential complications.
The treatments include regular monitoring including, psychological support, pain management, and physiotherapy.
Treatment for Neurofibromas
The tumors formed on the skin called neurofibromas do not require any treatment if they are small. However, if the neurofibromas are painful or causing any emotional distress, treatments can be considered.
Depending upon the size and the infected area of the neurofibromas, a plastic surgeon may cut them out of the body before releasing the skin. But, they can even perform laser surgery or an electrodesiccation as well. Although when the body is cleared from the neurofibromas, the wounds may take time to heal. The surgery may leave some scarring on the patient’s body.
Spots on the skin called cafe au lait spots
There’s no treatment or cure for the spots on the skin. Moreover, they tend to fade as people age. If a person is conscious of the marks, they may use makeup to cover them up.
Plexiform neurofibromas
Some neurofibromas can be painful as they develop within the branches of the nerves. The surgery for plexiform neurofibromas can be challenging. It is because tumors tend to spread quickly in the neighboring tissues and may press on bone structures. The surgery is risky as it can sometimes cause damage to the nerves leaving complications such as paralysis or loss of sensations in some areas of the body.
For the best advice, it is best to consult a specialist neurofibromatosis center to get a consultation if the surgery is better or other treatments will be suitable.
Learning difficulties
Children with NF1 suffer from learning difficulties. Support from professional experts is always a better choice, including:
- A speech therapist
- An educational psychologist dealing with improving learning abilities
High Blood pressure
High blood pressure can be controlled by living a healthy lifestyle:
- Doing regular exercise
- Maintaining a healthy weight.
- Reducing salt intake in the diet
Brain and Nervous System Problems
Tumors
Not all tumors need to develop inside the nervous system to show symptoms. However, they may interpret regular body functions. Tumors can be treated using medications or by surgery.
Radiotherapy for tumors
For benign tumors, radiotherapy isn’t an option as this can increase the risk of developing cancer.
Epilepsy
Epilepsy is treated using various sorts of drugs.
Malignant peripheral nerve sheath tumor
Cancer development in the outer coverings of the nerve is called a malignant peripheral nerve sheath tumor. Surgery is a better choice if a person develops cancer in the neurofibroma on the outer nerve coverings. However, to reduce the risk of cancer developing again, chemotherapy and radiotherapy are given after surgery.
Glomus tumors
Glomus tumors can be surgically removed, reducing the risk of pain recurrence.
What Else Should You Know?
With the advancements in medicine, recently, a preclinical study proved to have potential in treating peripheral nerve tumors. Scientists have demonstrated that cabozantinib has reduced the tumor volume and pain in patients suffering from neurofibromatosis type 1.
However, clinical trials and researchers continue to occur. There isn’t a cure for neurofibromatosis type 1. To reduce the pain, medicines are given, and in some cases, tumors can be surgically extracted or decreased by radiotherapy. But, in conditions where radiotherapy or chemotherapy are an alternative, the uncertainties and advantages must be weighed carefully.
It is necessary to address these problems sooner than later for best results. If you are looking for help, ensure to work with the right professionals who have the experience, knowledge, and expertise when dealing with these weighty situations.
