NEUROFIBROMATOSIS

Neurofibromatosis Symptoms and causes

Neurofibromatosis is a group of genetic disorders that cause tumours to form on nerve tissue. These tumours can occur anywhere in your nervous system, including the brain, spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis type 1, neurofibromatosis type 2, and schwannoma. Neurofibromatosis type 1 is usually diagnosed in childhood, while neurofibromatosis type ii and schwannoma are diagnosed in early adulthood. The giandliverconsultants provide the best gastrointestinal consultants in USA.

Tumours in these disorders are usually noncancerous (benign), but sometimes they can become cancerous (malignant). Its symptoms are often mild. However, complications of neurofibromatosis may include hearing loss, learning impairment, cardiovascular problems, vision loss and severe pain.

Neurofibromatosis treatment focuses on promoting healthy growth and development in children affected by the disorder and early management of complications. When neurofibromatosis causes large tumours or tumours pressing on a nerve, ma may require surgical intervention to reduce symptoms. Some people may benefit from other treatments like stereotaxic radiosurgery or pain-relieving medications. A new drug is available to treat pediatric tumours, and other new therapies are in development.

Neurofibromatosis type 1

Neurofibromatosis type 1 is usually diagnosed in childhood.  Disease can signed often be observed from birth or shortly after, and in most cases at the age of ten. Its signs and symptoms usually range from mild to moderate but vary in severity.

Signs and symptoms include:

Superficial light brown spots on the skin. These harmless spots are common among many sufferers. If more than six weak brown spots appear, this indicates type 1 neurofibromatosis. They usually arise from birth or during the first years of life. After childhood ends, new locations stop appearing.

These benign tumours usually develop in or under the skin, but they can grow inside the body. Sometimes these formations contain multiple nerves (plexiform neurofibromatosis), which, when present in the face, causes abnormalities. The number of neurofibromas may increase with age.

Bone deformities. Abnormal bone growth and low bone mineral density can cause bone abnormalities such as curvature of the spine (scoliosis) or lower legs.

Tumours form on the optic nerve (optic gliomas). These tumours usually appear at age 3 and, in rare cases, appear in late childhood and adolescence and never appear in adults.

Learning difficulties. Deficits in thinking skills are common in children with neurofibromatosis type 1 but are usually mild. In most cases, there is a specific learning difficulty, such as a problem with reading or mathematics. Other common problems include attention deficit hyperactivity disorder and delayed speech.

The head is more significant than average. Children with neurofibromatosis type 1 may have a larger-than-average head size because of the large brain size.

Short stature children with neurofibromatosis type 1 usually are faster than average.

Neurofibromatosis type 2

Neurofibromas of the second type are less common than neurofibromas of the first type. Neurofibromatosis type 2 signs and symptoms usually result from developing polyps, slow-growing tumours in the ears (acoustic neuromas) that can lead to hearing loss.

Signs and symptoms usually appear in the late teens and early adulthood but may vary in severity. Signs and symptoms may include:

• Progressive hearing loss
• Tinnitus
• Poor balance
• Headache

Sometimes, neurofibromatosis type 2 may cause schwannoma to grow in other nerves, including the cerebral, spinal, optic and peripheral nerves. People who have neurofibromatosis type 2 may develop other benign tumours.

Signs and symptoms associated with these tumours may include:

• The pain
• Difficulty maintaining balance
• Drooping face
• Vision problems or cataracts
• Epileptic seizures
• Headache

Schwannoma

Symptoms usually appear sometime between the ages of 25 and 30 years. Schwannomas cause tumours to develop on the cerebral, spinal and peripheral nerves, but they rarely affect the nerves that carry sound and balance signals from the inner ear to the brain

Symptoms of schwannoma include:

• Chronic pain can occur anywhere in the body and can sometimes limit movement
• The feeling of numbness and weakness in different parts of the body
• Muscle loss

When do you visit the doctor?

Consult your doctor if you or your child develops signs or symptoms of neurofibromatosis.

Neurofibromatosis arises from genetic defects (mutations) that pass from either parent or spontaneously at conception.

Neurofibromas of the first type. The gene that causes neurofibromatosis type 1 is located on human chromosome 17 (chromosome 17. The mutated gene causes a loss of the neurofibromin protein;

The gene that causes neurofibromatosis type ii is located on human chromosome 22 (chromosome 22), responsible for fighting tumours. The mutated gene causes a loss of the merlin protein; this leads to uncontrolled cell growth.

Schwannoma. So far, two schwannoma-causing genes have been discovered. Mutations in the tumour-fighting genes smarcb1 and lztr1 are associated with this neurofibromatosis type.

Risk factors

The autosomal dominant pattern of inheritance

Autosomal dominant inheritance patterns open the pop-up dialogue.

Having a family history of neurofibromatosis is the most significant risk factor for developing it. About half of people with neurofibromatosis type 1 and type 2 inherit the disease from a father or mother who had it. It is more likely that people with neurofibromatosis type 1 and type 2 and their relatives who did not have it have had a new genetic mutation. The giandliverconsultants provide the best liver consultants in USA.

Neurofibromatosis type i and ii are dominant somatic disorders; this means that if one of the parents has the disease, the chance of passing the genetic mutation on to either of their children is 50%.

The inheritance pattern of schwannomas is less clear.

Complications

In general, complications result from tumours affecting nerve tissue or pressing on internal organs.

Complications of neurofibromatosis type 1

Complications of neurofibromatosis type 1 include:

Neurological problems

The learning and thinking difficulties are the most common neurological problems associated with the disease neurofibromas of the first type. Uncommon complications include epilepsy and excess fluid buildup in the brain.

Worry about appearance

Visible signs of neurofibromatosis, such as excess light brown spots, numerous neurofibromas in the facial area or large neurofibromas, can cause anxiety and emotional pain, even if they are not medically serious.

Skeletal problems

Some children’s bones form abnormally, which can lead to bowed legs and fractures that sometimes don’t heal. Type 1 can cause spinal curvature (scoliosis) that may need bracing or surgery. The disease is associated with neurofibromas of the first type and is also low bone mineral density, which increases the risk of osteoporosis.

Vision problems sometimes, a tumour forms on the optic nerve (optic glioma), which can affect vision.

Problems during times of hormonal change. Most women with  type 1 can have a healthy pregnancy, but they may need follow-up from an obstetrician familiar with the disorder.

Cardiovascular problems

People with  type 1 are at increased risk of developing high blood pressure and vascular disorders.

Breathing problems

In rare cases, plexiform neurofibromas can compress the airway.

Cancer. It is estimated that 3% to 5% of people with type 1 may develop carcinoid tumours. It usually arises from subcutaneous neurofibromas or plexiform neurofibromas. People with type 1 neurofibromatosis are also at increased risk of other forms of cancer, such as breast cancer, leukemia, colorectal cancer, brain tumours, and some types of soft tissue cancer. Women with type 1 neurofibromatosis should start breast cancer screening earlier than the average person.

A benign adrenal tumour (pheochromocytoma). This noncancerous tumour secretes hormones that raise blood pressure. Surgery is usually required to remove a pheochromocytoma.

Complications of neurofibromatosis type 2 include:

• Partial or total deafness
• Facial nerve damage
• Vision problems
• Small benign skin tumours (cutaneous schwannomas)
• Weakness or numbness of the limbs
• Multiple benign brain tumours or spinal tumours (meningiomas) require several surgeries