Neurofibromatosis (NF)short message

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

1. 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.
2. 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)
3. 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
4. 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

1. Neurofibromatosis Saja Alkhdour An-Najah National University/ Faculty of Medicine
2. 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