Neurofibromatosis

In the past, medical technology was relatively backward, so many diseases could not be cured. Medicine is constantly making progress, which can explain many medical principles that could not be explained before. Neurofibromatosis is a relatively common chromosomal genetic disease, so patients will not discover the symptoms of their children until they give birth, so medicine advocates pre-natal physical examinations.

As a dominant genetic disease, the harm caused by this disease is that it can damage the patient's developing nerves, and it will also be accompanied by some obvious symptoms in the body, which requires patients to pay more attention in daily life. Next, let us take a detailed look at the relevant introduction of neurofibromatosis through this article.

Neurofibromatosis is an autosomal dominant genetic disease caused by a gene defect that causes abnormal development of neural crest cells, leading to multi-system damage. According to clinical manifestations and gene location, it is divided into neurofibromatosis type I (NFI) and type II (NFⅡ).

1. Skin symptoms

Almost all cases have visible café-au-lait spots on the skin at birth. They vary in shape and size, have irregular edges, and do not protrude from the skin surface. They are more common on non-exposed parts of the trunk. More than 6 café-au-lait spots > 5 mm before puberty (> 15 mm after puberty) have a high diagnostic value. Freckles on the body and in the armpits are also a characteristic feature.

2. Neurological symptoms

About 50% of patients experience neurological symptoms, which are mainly caused by compression of central and peripheral nerve tumors, followed by glial cell proliferation, vascular proliferation and bone deformities.

3. Eye symptoms

Fibrosoft tumors or plexiform neurofibromas may be seen on the upper eyelid, masses and exophthalmos may be palpated in the eye sockets, and miliary orange-yellow round nodules may be seen under slit light on the iris. These are hamartomas, also called Lisch nodules, which may increase with age and are a unique manifestation of NFI.

4. Common congenital bone dysplasia

These include scoliosis, kyphosis and kyphosis, skull asymmetry, defects and depressions. Direct compression by the tumor can cause bone changes, such as enlargement of the internal auditory canal caused by acoustic neuroma, and enlargement of the intervertebral space and bone destruction caused by spinal neuroma.

Through this article, we can learn about the dangers of neurofibroma and some symptoms that can be found in daily life by giving a relatively detailed introduction to neurofibroma. If you find symptoms related to fibroid tumors in your daily life, you should go to the hospital for treatment in time. Only by cooperating with the doctor can you ensure the recovery of the disease.