Causes and Symptoms of Neurofibroma,

Whether It Is Inherited, and Treatment Options

Neurofibroma is a benign tumor that develops in tissues such as bone and skin surrounding the nerves, and it can be broadly classified into type 1 and type 2.

Generally, about 85% of patients have type 1, and type 1 and type 2 are caused by mutations in the NF1 and NF2 genes.

Today, we will take a detailed look at the causes of neurofibroma, its representative symptoms, diagnostic methods, whether it is inherited, treatment methods, and prevention.

The symptoms and age of onset differ depending on the type of neurofibroma a patient has, and in type 1, it usually develops during childhood.

It is a rare, intractable hereditary disease in which tumors develop along nerve bundles throughout the body, caused by mutations in genes on chromosome 17.

Type 2 occurs in patients who have bilateral eighth cranial nerve masses, or in patients with a unilateral eighth cranial nerve mass who also have family members with the disease.

As people with neurofibroma age, visible external features gradually appear, and various symptoms can arise depending on the size and location.

In general, it may look like a simple skin lesion on the surface, but it gradually grows larger and may be accompanied by neurological symptoms such as pain and numbness.

In particular, tumors that develop around the spine and along peripheral nerves can compress adjacent nerves, leading to sensory abnormalities or reduced motor function.

The light brown spots on the skin are also called café-au-lait spots, and they appear at birth in all patients, with the spot color gradually becoming darker.

They appear not only on the skin but also in the gastrointestinal tract, and the fact that the disease increases during puberty and pregnancy means that it is affected to some extent by hormones.

Therefore, before the symptoms become severe, it is necessary to visit a related medical institution for a thorough diagnosis and appropriate measures, and to monitor the course through regular checkups.

The disease is usually diagnosed based on clinical symptoms, family history, and the distribution of skin lesions, and MRI or genetic testing may be performed if necessary.

In the case of type 1, it can be diagnosed if two or more symptoms are present, such as six or more spots, two or more fibromas, one plexiform fibroma, or characteristic bone lesions.

For both type 1 and type 2, treatment focuses on symptomatic therapy to relieve the symptoms that have developed, and the method varies depending on the tumor size and the severity of symptoms.

If it is a simple skin lesion, it can be easily removed surgically, but tumors close to the nerves and spinal cord require a more difficult procedure.

In addition, there is some possibility of recurrence even after treatment, so follow-up observation through periodic imaging tests and neurological examinations is necessary.

Because it is a genetic disease that is difficult to prevent, if there is a family history, family members should undergo regular medical checkups and genetic testing starting immediately after birth.