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What is von Recklinghausen Disease – Symptoms and Diagnosis

Neurofibromatosis also known as von Recklinghausen disease is a genetically inherited disorder of the nerve tissues. The affected nerves connect the inner ears to the brain. Non-malignant or benign type tumors develop as a result of this condition. In 10 percent cases, these tumors turn malignant leading to the dreadful cancer ailment.

1 in 60,000 people is reported to develop this autosomal dominant disorder. It means even if only one parent has this problem, there is 50 percent chance of the off-spring developing this condition. Mutations in the chromosomes 17q11.2 and 22q12 cause neurofibromatosis. In rest of the cases, mutation in a new gene is responsible for the onset of this disorder.

There are two types of this disease, namely type 1 and type 2. 90 percent cases of this disorder are of type 1 category. Its frequency of report is 1 in 4000 people. The latter type has a frequency of 1 in 45,000 people.

What is Neurofibromatosis Type 1?
Neurofibromin or chromosome 17q11.2 is a tumor suppression gene whose function is to stop the p21 ras oncoprotein from functioning actively. When mutation takes place in neurofibromin, the mentioned ability of this gene is disrupted.

As a result, uncontrolled growth of abnormal cells causes formation of the tumors. Children with this type of the disorder are 200-500 more at risk of developing blood cancer when compared to normal children. Learning disability and epilepsy are associated with this type of disorder.

What is Neurofibromatosis Type 2?
Mutation in the protein merlin of chromosome 22q12 causes this disorder type. It accounts for 10 percent cases of von Recklinghausen disease. Scientists are yet to know the functions of the merlin protein.

What is Schwannomatosis?
When both the chromosomes 17 and 22 undergo mutation, a disorder called Schwannomatosis occurs. It affects cranial, spinal and peripheral nerves. It involves chronic pain, weakness, numbness and tingling. In one-thirds of cases, one part of the body is affected and no hearing loss or learning disabilities are associated with this type of nerve disorder.

What are von Recklinghausen Disease Symptoms?
Based on the types of the disorder, the signs associated with them are as follows:
Neurofibromatosis Type 1 Symptoms:

  • Bone abnormalities
  • Bone deformities
  • Neurofibromas – Technical name for tumors on the surface of the nervous system
  • Spinal tumor
  • Tumor in the brain
  • 50 percent patients report of learning disabilities
  • Balance disorders
  • Epilepsy
  • Progressive vision loss
  • Disorders associated with sensations
  • Brown skin spots
  • Thousands of lumps on the skin
  • Light brown color birth marks
  • Freckle-like spots
  • Tingling
  • Numbness of the skin
  • Prickling

Neurofibromatosis Type 2 Symptoms:

  • Headaches
  • Ringing in the ears
  • Hearing loss
  • Neurofibromas
  • Speech problems
  • Balance problems
  • Seizures
  • Hypertension
  • Learning disabilities
  • Problems with eye movements
  • Large head
  • Facial pain
  • Thinning of long bone cortex
  • Short stature
  • Numbness
  • Spinal curvature
  • Visual-spatial learning problems
  • Optic pathway tumor
  • More than 6 light color brown birth marks
  • Neural crest malignancies
  • Slow growing rare tumor of the nerves – Acoustic neurinomas
  • Abnormal rotation and sideways curves of the spine – Scoliosis
  • Abnormal backward curve of the spinal cord – Kyphosis
  • A rare skin tumor – Plexiform neurofibroma
  • Non cancerous benign tumor – Lisch nodules
  • One side of the body large than the other side – Hemihyperthrophy
  • Abnormal appearance of the cells – Dysplasia of the sphenoid bone
  • Melanin concentration in the lower abdomen in the form of clusters

Neurofibromatosis Type 2

Owing to the nature of the disorder to affect nerves all along the body, it is very difficult to diagnose the symptoms and predict its prognosis.

How to Diagnose von Recklinghausen Disease?
Based on the experience health care professionals had with the patients of this disorder, certain criteria have been developed for diagnosing both the types of this disorder. If two or more of the mentioned signs are apparent, then a patient is diagnosed with type 1 of neurofibrosis disorder.

Hearing loss owing to the formation of tumors in the inner ears around the age of twenty is a definite hallmark of the type 2 of this disorder.

Treatment of Neurofibrosis:
Both men and are equally at risks of developing neurofibrosis with the severity varying on individual basis. Unfortunately, no therapy is available to address the disorder. As multiple locations and organs of the body get affected over a period of time, the treatment aims at curbing these associated complications of this nerve disorder.

Latest Research on MISME Syndrome:
In a recent development, researchers from the Wister Institute have found that a protein Angiomotin plays an important role along with the Merlin protein in the division and communication of type 2 cancer cells. The findings of this study are published in the April 12, 2011 issue of the journal Cancer cell.

The results of the study have open new potential therapy for this syndrome. The research revealed that the protein Angiomotin cause the movement of the cells which form blood vessels of the type 2 tumor. Now new drugs can be developed which can target this protein. As the formation of new blood vessels would cease to exist, the tumor would be deprived of the nutrients supplied through these pathways from the blood.

This can cause the cancer cells to face death from starvation. Apart from its role in the formation of the blood vessels, this protein has a direct role in the proliferation of the cancer cells. As a part of further research efforts, the experts would be trying to learn about the role of this protein in other cancers associated with NF2 mutations.

3 responses to What is von Recklinghausen Disease – Symptoms and Diagnosis

  1. jon said on May 22, 2011

    Hi,
    I have NF type 1, please keep me informed about your future research.
    I live in Sydney Australia, and if you need someone for further research
    please contact.

    Regards
    Jon

    ps.can stem cells help?

    livingston23@hotmail.com

  2. my daughter has this no one in my family or her fathers family has this. i thought its becouse i got chicken pox when i was seven months pregant with her. i went to the hopitals and no one told me what it was. until i went to pravit doctor who told us he can laser it at $3000.00 per nob. she is healthy.just recently she said the big nob on her hand is paining her. no one seem to know whats going on with my child can someone help me. iam from a small twin island name trinidad and tobago.

  3. Hi Tracyann,

    I’ve started my search about this for a brother that was diagnosed years ago, then told it wasn’t this about 4 years later. 3 out of 6 of us kids do have some sort of nerve problems, small tumors all over, etc, but right now that’s not what I’m posting to you about.
    I’m a Mom to 4 grown kids and g-mom to almost 14 and gr-g-mom to 1. We’ve been so incredible blessed with our kids, poor and broke, but blessed. Your post above brought back all the fear that a Mom feels each time we bear our children and my heart really goes out to you. I wish I had some kind of answer for you, or was rich so I could help you find someone that really could help but all I can do its offer my hope and prayers that you’ll find someone that can help you help your child. I know this post can’t change a thing in your life but just know there is someone out here that is thinking of you and praying life will get easier for you and your family. Take good care, Kat

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