- The most extreme case of neurofibromatosis is the well-known “woman with 100 lumps”
- Since she was a teenager, Sandra De Santos grew lumps all over her body, until she COULDN’T ANYMORE
- Neurofibromatosis is a genetic disorder of the nervous system
@el__adritu Second part rips off the pimples #hospital #omg #vultos #TV #medical ♬ original sound – 🇪🇸
From when I was a teenager to Sandra Santos they grew lumps All over your body. This Brazilian woman, she suffers from neurofibromatosis and over time, they grew benign lumps on the face and body. A problem that their three children have also inherited.
It is a genetic condition that affects the nervous system and the skin and affects one in 3,000 births, but in different degrees of severity.
The benign tumors cover this woman’s body from head to toe and her condition was passed on to three of her four children. Although, unfortunately, one of them passed away when she was 6 years old because the disease turned cancerous.
The first symptoms of the disease were brown spots on the skinwhich manifested in his puberty, and finally he was diagnosed with “neurofibromatosis sarcoma” in 1970, a time when very little was known about the disease.
Neurofibromatosis
The neurofibromatosis It is a genetic disorder of the nervous system. It affects the way cells grow and form and causes tumor growth on the nerves The tumors are usually benign (not cancerous), but sometimes they can turn into cancer.
The neurofibromatosis it can be inherited from parents or it can occur from a mutation (change) in genes. If you have this condition, you can pass it on to your children.
There are three types:
- Type 1 (NF1), which causes skin changes and bone deformities. It usually starts in childhood. Sometimes symptoms are present at birth.
- Type 2 (NF2), which causes hearing loss, ringing in the ears, and balance problems. Symptoms usually begin in adolescence.
- Schwannomatosis causes severe pain. It is the rarest type.
The doctors can to diagnose the different types of this condition based on the symptoms. Genetic tests are also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptom. Depending on the type of disease and its severitytreatment may include surgery to remove tumors, radiation therapy, and medicines.
Causes
Neurofibromatosis is caused by genetic defects (mutations) that are passed on by parents or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis:
- NF1. The Gen NF1 is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate the cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrollably.
- NF2. The Gen NF2 is located on chromosome 22 and produces a protein called merlin (also called schwannoma) that suppresses tumors. The mutated gene causes a loss of merlin, allowing cells to grow uncontrollably.
- Schwannomatosis. To date, two genes are known to cause schwannomatosis. The mutations of SMARCB1 and LZTR1 geneswhich suppress tumors, are associated with this type of neurofibromatosis.
Risk factor’s
The most important risk factor for neurofibromatosis is having a family history of the disorder. About half of people with neurofibromatosis type 1 and neurofibromatosis type 2 inherited the disease from an affected parent. People with neurofibromatosis type 1 and neurofibromatosis type 2 and whose unaffected relatives have a new genetic mutation.
Both the neurofibromatosis Both type 1 and type 2 neurofibromatosis are autosomal dominant disorders, meaning children with a parent affected by one of these have a 50 percent chance of inheriting the gene mutation.
The inheritance pattern in the case of schwannomatosis is not so clear. Currently, researchers estimate that the risk of inheriting schwannomatosis from an affected parent is about 15 percent.
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