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By: Matt Murray
 One of the most common single gene disorders , with  an incidence of around 1 in 3000 (NF) cancer cells can attack all ...
 Friedrich Daniel von Recklinghausen, a German pathologist and professor in Strassburg, first recognized(NF) type 1 1882...
 1822-, Wishart, a Scottish surgeon, published the first -  description of a deaf and blind boy with multiple  tumors of ...
 Until 1987 these two similar but different diseases were  grouped apart. 1987- the National Institutes of Health (NIH) ...
 (NF) type 1 and 2 are Autosomal Dominant (NF) can appear in any sex. Successive generations can be effected Transmiss...
 The responsible gene is located on the long arm of chromosome 17 The 17th chromosome is responsible for the protein Neu...
 Because of this mutation cells divide when it is  inappropriate. In (NF) the cells are cancer cells. Neurofibroma -a be...
 Café-au-lait patches (6 or more) and larger than 5mm in  diameter. Freckling in the arm pit/groin region optic glioma...
 The responsible gene is on the long arm of the 22nd chromosome. The 22nd chromosome is responsible for the protein merl...
 The type of cancer cells (MISME syndrome) Multiple Inherited Schwannomas Meningiomas Ependymomas (NF)2 –all benign t...
 Survival is reduced in (NF)2 Average age of death is around 32 years 50% of (NF)2 cases are new mutations
 Café-au-lait patches and peripheral neurofibromas can occur just like in (NF)1 Bilateral Schwannomas ( Cranial Nerve [C...
 Neurofibroma Congenital bowing of tibia and fibula due to  pseudarthrosis Optic glioma Scoliosis Epilepsy
 Hypertension Nerve root compression by spinal neurofibromas Benign cancers can turn Malignant Learning disability
 There is no cure for (NF)type 1 or type 2 Surgery to remove the tumors is the only treatment. Depending on location of...
Neurofibromatosis
Neurofibromatosis
Neurofibromatosis
Neurofibromatosis
Neurofibromatosis
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Neurofibromatosis

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Transcript of "Neurofibromatosis"

  1. 1. By: Matt Murray
  2. 2.  One of the most common single gene disorders , with an incidence of around 1 in 3000 (NF) cancer cells can attack all parts of the body because of the location in the nervous system. www.youtube.com/watch?v=gy-QHs9q3z8&NR=1tp://
  3. 3.  Friedrich Daniel von Recklinghausen, a German pathologist and professor in Strassburg, first recognized(NF) type 1 1882- Recklinghausen characterized the tumors of (NF) type 1 as neurofibromas (NF) type 1 also called (von Recklinghausen disease)
  4. 4.  1822-, Wishart, a Scottish surgeon, published the first - description of a deaf and blind boy with multiple tumors of the cranial nerves. which has been recognized as the principal form (NF) type 2 (NF) type 2 also called MISME syndrome
  5. 5.  Until 1987 these two similar but different diseases were grouped apart. 1987- the National Institutes of Health (NIH) Consensus Development Conference defined these 2 diseases as 2 distinct types of (NF) (NF1), or von Recklinghausen disease, which affects 90% of patients, (NF2), or MISME syndrome, which affects 10% of patients
  6. 6.  (NF) type 1 and 2 are Autosomal Dominant (NF) can appear in any sex. Successive generations can be effected Transmission stops after a generation in which no one is affected.
  7. 7.  The responsible gene is located on the long arm of chromosome 17 The 17th chromosome is responsible for the protein Neurofibromin, which when mutant causes (NF) type 1 Neurofibromin – protein that normally suppresses activity of a gene that causes cell division.
  8. 8.  Because of this mutation cells divide when it is inappropriate. In (NF) the cells are cancer cells. Neurofibroma -a benign tumor in the peripheral nervous system. Arise from the cells that form and support the nerve sheath. Average age of death is in the late 50’s
  9. 9.  Café-au-lait patches (6 or more) and larger than 5mm in diameter. Freckling in the arm pit/groin region optic glioma bone defects Visual skin neurofibroma(small, rubbery skin lesions) can be a couple hundred to thousands.
  10. 10.  The responsible gene is on the long arm of the 22nd chromosome. The 22nd chromosome is responsible for the protein merlin Merlin - protein that is a tumor suppressor.
  11. 11.  The type of cancer cells (MISME syndrome) Multiple Inherited Schwannomas Meningiomas Ependymomas (NF)2 –all benign tumors in the cranial and spinal region.
  12. 12.  Survival is reduced in (NF)2 Average age of death is around 32 years 50% of (NF)2 cases are new mutations
  13. 13.  Café-au-lait patches and peripheral neurofibromas can occur just like in (NF)1 Bilateral Schwannomas ( Cranial Nerve [CN] VIII) masses seen with appropriate imaging techniques ( computed tomography [CT] or magnetic resonance imaging [MRI]) Meningiomas Ependymomas
  14. 14.  Neurofibroma Congenital bowing of tibia and fibula due to pseudarthrosis Optic glioma Scoliosis Epilepsy
  15. 15.  Hypertension Nerve root compression by spinal neurofibromas Benign cancers can turn Malignant Learning disability
  16. 16.  There is no cure for (NF)type 1 or type 2 Surgery to remove the tumors is the only treatment. Depending on location of the tumor and treating it in a timely matter before the growth becomes to large and inoperable. If (NF) is found in childhood , the child should be seen every 6 months to be monitored.
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