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. 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. 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. 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. (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.
8. 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.
9. 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
10.
11. 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.
12.
13. 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.
14. The type of cancer cells (MISME syndrome)
Multiple Inherited Schwannomas
Meningiomas
Ependymomas
(NF)2 –all benign tumors in the cranial and spinal region.
15. Survival is reduced in (NF)2
Average age of death is around 32 years
50% of (NF)2 cases are new mutations
16. 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
17.
18.
19. Neurofibroma
Congenital bowing of tibia and fibula due to
pseudarthrosis
Optic glioma
Scoliosis
Epilepsy
20. Hypertension
Nerve root compression by spinal neurofibromas
Benign cancers can turn Malignant
Learning disability
21. 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.
