Showing posts with label Neurofibromatosis Treatment. Show all posts
Showing posts with label Neurofibromatosis Treatment. Show all posts

Sunday, October 13, 2013

Neurofibromatosis

Neurofibromatosis

What is Neurofibromatosis?


This disorder that is genetic interrupts growth of cells in the nervous system, triggering tumor formation on tissues of the nerves. The tumors can develop anyplace in the nervous system, as well as the spinal cord, small and large nerves as well as the brain. This disorder is normally diagnosed in early adulthood or childhood.








The tumors with neurofibromatosis are typically benign or noncancerous and this disorder is normally mild. The variety of effects goes from learning impairments due to hearing loss to cardiovascular problems and in some cases, cancer.


The treatment for this disorder is to capitalize on healthy growing as well as to manage any obstacles immediately as they develop. In the cases where neurofibromatosis develops tumors that are large or that press on a nerve, surgery often aids in easing the symptoms.


Neurofibromatosis Symptoms


Neurofibromatosis Type 1


NF1 usually develops in childhood. The symptoms and signs include:


Light-brown, flat spots on skin


Harmless spots, also referred to as “cafĂ© au lait” spots are very common in numerous individuals. If a person has more than about six (6) of them, it is a solid signal of NF1. These spots usually are existing at birth or develop during year one (1) of life. The number has the tendency to rise in early childhood and they then stabilize. While they are not serious there is often a concern cosmetically.


Freckles in the groin or armpit area


This normally appears by four (4) to five (5) years of age.


Bumps that are soft on or underneath the skin – neurofibromas


Tumors that are benign and grow on the nerve tissues close to the skin. Often a tumor will comprise numerous nerves referred to “plexiform neurofibroma”.


Bumps that are tiny on the iris of the eye – Lisch nodules


These inoffensive lesions are hard to see but a physician can find them with special instrumentation.


Bone deformities


Abnormal way bones develop as well as an insufficiency in bone density minerals can cause deformities of the bones such as curved spine (scoliosis) or lower leg bowed.


Disabilities in learning


Impaired cognition or intelligence in children is common with NF1, but is normally mild. The majority of children as in the low-average to average range. These children also have a definite learning disability such as visual-spatial skin problems or “attention-deficit/hyperactivity disorder” (ADHD)


Average head size is larger
Those children with NF1 have brain volume that is larger but it is not known if this is related to impairment of cognition



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Short stature


Another characteristic seen sometimes in children with NF1


Neurofibromatosis Type 2


This type of neurofibromatosis is not as common as NF1. Symptoms and signs of NF2 normally come due to the growth of vestibular schwannomas (acoustic neuromas) in each ear. These tumors that are benign develop on the nerve carrying sound as well as balance data to the brain from the inner ear thru the eighth cranial nerve. This results in symptoms that normally appear in late teen and early adulthood. These symptoms include:



  • Hearing loss that is gradual

  • Balance that is poor

  • Ringing in the ears


In several cases, NF2 may lead to tumor development on nerves in other areas of the body, such as the cranial, visual or optic, peripheral, or spinal nerves. The associated symptoms and signs can include:



  • Weakness and numbness in legs or arms

  • Cataracts


Other symptoms


Schwannomatosis is a rare type of neurofibromatosis only recognized recently. It seems to only affect individuals in their 20s and 30s. It causes tumors referred to as schwannomas to develop on spinal, peripheral and cranial nerves but not on the nerve carrying sound and balance from the inner ear to the brain, so it will not cause any hearing loss, making it unlike NF2. But like NF2, it does not cause any cognitive impairment. The major symptom is:



  • Chronic pain which occurs anywhere in the body


If symptoms or signs of neurofibromatosis are noticed in an individual or their child, an appointment needs to be made with a primary care physician. Since these tumors with neurofibromatosis are almost always slow growing and benign a timely diagnosis as well as monitor for any complications is need, but is not an emergency


Neurofibromatosis Treatment


The major part of treatment for this disease is monitoring for any complications by a team of specialists at neurofibromatosis clinics as well as starting treatment that is suitable as early as possible. Normally, the sooner patients are under the care of a physician who is a specialist in this condition, the much better the outcome will be.


Monitoring
Individuals with NF1 need to have age-suitable checkups yearly in order to:



  • Check for signs of high blood pressure

  • Check the skin for any fresh neurofibromas or any modifications in ones that already exist

  • Evaluation of growth as well as development – including weight, head circumference, height – according to charts of growth that are available for children with NF1

  • Evaluate any abnormalities or skeletal changes

  • Assess development and progress in learning in school

  • Get an eye exam that is complete


If any changes in symptoms or signs are noticed between visits, for instance rapid growth of neurofibroma or onset of pain in a tumor, it is vital to contact the physician immediately in order to rule out any possibility of a cancerous tumor as well as to access appropriate treatment at an early stage.


When a child with NF1 reaches adulthood, then the rate of monitoring may be adjusted to better suit the needs of the person with NF1. Those adults with mild disease might not need monitoring as often as individuals with more severe complications.


Surgery/Other Procedures


Surgery
Surgery in order to eradicate all or part of the tumors that compress nearby tissues or damage organs can help relieve symptoms. This is applicable for all types of neurofibromatosis. Total removal of schwannomas in schwannomatosis can substantially ease pain. But, be certain to go over the pros and cons of surgery with the physician or the surgeon experienced in the treatment of nerve tumors. For instance, tumors can grow back and operating on the exact same site over and over is not as reasonable as it was the first time. As well, surgery to remove vestibular schwannoma carries over the risk of totally loss of hearing loss or damage to nerves in the face.


Stereotactic radiosurgery
Stereotactic radiosurgery can be a possibility for individuals with NF2 as well as a vestibular schwannoma. This technique lets your physician distribute radiation specifically to the tumor location and it also aids in maintaining hearing to some degree. But it could generate worry of a radiation-inducing cancer, particularly if the radiation is applied frequently and at a young age.


Laser therapy and plastic surgery
Laser therapy and plastic surgery can be used in the removal of lesions on the surface of the skin thus helping improve appearance.


Back brace is sometimes used to treat scoliosis. With severe cases, surgery of the back might also be a decision.


Cancer treatment


Tumors that are malignant as well as other cancers linked with neurofibromatosis – most often NF1 – are managed with cancer therapies which are standard, such as chemotherapy and radiation therapy as well as surgery.









Neurofibromatosis Pictures