Are you curious about the symptoms of neurofibromatosis?

 

A comprehensive overview of neurofibroma genetics, initial symptoms, types, treatment options, potential for cure, and hospital information.

 

 

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What is neurofibroma?

 

 

Neurofibromas are a condition where fibrous tumors (lumps) develop along the nerves.
Typically classified as hereditary diseases, they grow like tumors in various areas such as the nervous system, skin, brain, and spinal cord.
Even if it appears to be a simple skin condition, it is actually a disease that can affect the entire body.

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

 

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Neurofibroma symptoms – in the early stages?

 

 

The first noticeable symptom of neurofibroma is a light brown spot called a "cafe-au-lait spot."
They often appear on areas like the back, shoulders, and armpits, and just look like pigmentation.
A soft lump can be felt on the skin or small spots like freckles may appear.

In children, cognitive and physical issues such as learning disabilities, decreased attention span, and growth retardation also occur.
If there is a problem with the optic nerve again, symptoms such as decreased vision or reduced visual fields may also occur.

 

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Are neurofibromas hereditary?

 

 

That's correct. If one parent is a patient, there is a 50% chance it will be inherited by their child.
However, there are many cases caused by 'mutations' even without a family history.
So, it's a disease that cannot be taken lightly.

 

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What are the types of neurofibromas?

 

✔ NF1 (Type 1):
- Cafe au lait spots, skin lumps, spinal deformities, cognitive impairments
- Total nerve fibroma: a large, deeply embedded tumor

 

✔ NF2 (Type 2):
Tumor development near the brain or auditory nerve
Sudden hearing loss, brain tumor, meningioma

 

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Treatment methods based on neurofibroma symptoms

 

It is not a disease that can be completely cured.

 
However, depending on the symptoms
- Surgery (or removal of a lesion),
- Medication treatment (e.g., Coselugo used for type 1)
- Radiation therapy and other treatments can be provided.

 

Type 2 often has no treatment medication, and surgery is often difficult.
Diagnosis and management are just as important.

 

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Is a complete cure possible for neurofibromas?

 

Honestly, this is a disease where 'management' is more important than complete recovery.

If a fibroma is intertwined with nerves or blood vessels, removal itself is difficult.
Furthermore, recurrence is common even after surgery, and multiple anesthesia and surgeries may be necessary.

However, not all patients are severe.
Many people live ordinary lives without major problems in mild cases.

 

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Recommended hospitals for neurofibromatosis

 

Neurofibromas are rare diseases.
It is recommended to receive treatment at a university hospital-level or higher facility that has departments such as Clinical Genetics, Neurosurgery, and Dermatology.

There are 대표적으로 places like Severance Hospital and Seoul Asan Medical Center.
Clinical trials for treatments are also actively underway.

 

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In conclusion

 

Neurofibroma symptoms vary from person to person.
A single skin spot can affect the nervous system, hearing, and vision.
This is a disease that cannot be taken lightly at all.

But don't be too scared.

Because early detection, regular management, and the development of new treatments are underway.
Rather than feeling discouraged by only seeing information about depression,
Knowing well and responding appropriately are the most important.

 

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