Neurofibromatosis Symptoms: A Complete Guide | From Early Changes to Treatment

Are you curious about the symptoms of neurofibromatosis?

 

We have summarized everything at a glance, from the genetic status of neurofibromatosis, early symptoms, types, treatments, and the possibility of a cure, to hospital information.

 

 

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What is neurofibromatosis?

 

 

Neurofibroma is literally a disease where fibromas (lumps) form along the nerves.
It is usually classified as a hereditary disease and grows like a tumor in various parts of the body, such as the nervous system, skin, brain, and spinal cord.
It may look like a simple skin disease, but it is actually a condition that can affect the entire body.

This disease is also called 'NF' and is divided into type 1 and type 2.
Over 85% are Type 1 (NF1), and the rest are Type 2 (NF2).

 

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Neurofibromatosis Symptoms – In the Early Stages?

 

 

The first symptom of neurofibromatosis to appear is a light brown spot called a 'café au lait spot'.
It appears frequently on places like the back, stomach, and armpits, and just looks like pigmentation.
You may feel soft lumps on your skin or small spots like freckles may appear.

In the case of children, cognitive and physical problems such as learning disabilities, attention deficits, and stunted growth also occur.
Also, if there is a problem with the optic nerve, symptoms such as decreased vision or reduced field of vision may occur.

 

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Is neurofibromatosis hereditary?

 

 

That is correct. If one of the parents is a patient, there is a 50% chance that it will be inherited by the child.
However, even without a family history, there are many cases where it occurs due to a 'mutation'.
So it is a disease you cannot let your guard down against.

 

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What are the types of neurofibromatosis?

 

✔ NF1 (Type 1):
- Café au lait spots, lumps on the skin, spinal deformities, cognitive impairment
- Plexicate neurofibroma: A large, deep-seated lump

 

✔ NF2 (Type 2):
- Tumors develop near the brain or auditory nerve
- Sudden hearing loss, brain tumor, meningioma

 

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Treatment methods based on neurofibromatosis symptoms

 

It is not a disease that can be completely cured.

 
However, depending on the symptoms
- Surgery (removal of lumps),
- Drug treatment (e.g., Coselugo used for Type 1),
- Radiation therapy and the like can be performed.

 

There is no cure for Type 2, and surgery is often difficult.
That is why diagnosis and management are so important.

 

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What is the possibility of a complete cure for neurofibromatosis?

 

To be honest, it is a disease where 'management' is more important than a complete cure.

If the fibroma is entangled with nerves or blood vessels, it is difficult to remove.
Furthermore, recurrence is common even after surgery, and multiple anesthesia and surgeries may be required.

However, not all patients are severe.
In mild cases, there are many people who lead ordinary lives without any major problems.

 

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Neurofibromatosis Hospital Recommendation

 

Because neurofibromatosis is a rare disease
I recommend receiving treatment at a university hospital or higher that has departments such as clinical genetics, neurosurgery, and dermatology.

Representative examples include Severance Hospital and Asan Medical Center.
Clinical trials for the treatment are also actively underway.

 

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In conclusion

 

Neurofibromatosis symptoms vary from person to person.
Given that something starting as a single skin spot can affect the nervous system, hearing, and vision
It is a disease that absolutely cannot be taken lightly.

But don't be too scared.

Because it is detected early, managed regularly, and new treatments are being developed.
Rather than getting discouraged by looking only at depressing disease information,
It is most important to know well and handle it well.

 

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