Neurofibromatosis (NF)short message
✍️ The commonest of all the phakomatoses
✍️ NF1 and NF2
✍️ prevalence of NF1 is 1/3,000 and NF-2 is much less common (1/25,000)
✍️ NF1 and NF2 Mutations in the neurofibromin gene (Chr 17q) and in the merlin gene (Chr 22q) respectively.
✍️ AD but with variable expressivity.
✅ Neurofibromatosis 1
✍️ ocular associations
• Optic nerve glioma
• Lisch nodules >2 in number
• Lid neurofibroma
• Choroidal navus
• Retinal astrocytoma
✍️ Systemic associations
• cafe au lait spots ( >6 in number , >0.5 cm in size pre-puberty or 1.5 cm post-puberty )
• Axillary or inguinal freckles
• Neurofibromas > 1 in number ( plexiform type )
Or >2 in number ( any type)
• Characteristic bony lesion ( sphenoid dysphasia with pulsatie proptosis ) or long bones ( cortical thinning and dysplasia )
• 1st degree relative with NF1
✅ Definite diagnosis of NF1 require at least 2 sign ( ocular and systemic ) of the ones I marked with symbols ( )
✅ Neurofibromatosis 2
✍️ ocular associations
• Early onset ( juvenile) cataract ( PSCC or CC)
• combined Hamartoma of RPE and the retina
✍️ Systemic associations
• Acoustic neuroma
• Meningioma
• Glioma
• Schwannoma
• 1st degree relative with NF2
✍️ Definite diagnosis of NF2 requires one of the following :
1- Bilateral acoustic neuroma
2- 1st degree relative NF2 with either a or b
a- unilateral acoustic neuroma at <30 yrs old
b- two of ( glioma , schwannoma, meningioma or juvenile cataract)
✍️ Probable diagnosis of NF2 requires one of the following
1- Unilateral Acoustic neuroma ( <30 yrs old )
with one of the following ( meningioma , schwannoma, glioma, juvenile cataract)
2- multiple meningioma with unilateral Acoustic neuroma ( <30 yrs old )
3- one of ( meningioma, schwannoma,glioma or juvenile cataract)
Neurofibromatosis power point presentations:
Neurofibromatosis By: Matt Murray
https://www.slideshare.net/shibby5587/neurofibromatosis-12230442
- 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.
- 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)
- 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
- 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
Neurofibromatosis
https://www.slideshare.net/SajaAlkhdour/neurofibromatosis-60270135
- Neurofibromatosis Saja Alkhdour An-Najah National University/ Faculty of Medicine
- Neurofibromatosis * One of the neurocutaneous syndromes * AD * Progressive * Defect in differentiation of the primitive ectoderm * NF-I, NF-II
Neurofibromatosis Videos :
WHat is Neurofibromatosis Type 1 (NF1)
Neurofibromatosis (NF)short message
