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Exam (elaborations)

Neurology genetics dermatology

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This is complete review of various neuro cutaneous syndromes, which are frequently asked in various exams eg. USMLE, MRCP, MRCPCH, PLAB, etc. The review has been written in student friendly manner with hand written notes for better retention.

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  • September 7, 2024
  • 64
  • 2022/2023
  • Exam (elaborations)
  • Questions & answers
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Neuro
Cutaneous
Syndrome

-
Dr. Anmol
20th Jan,2022

,What are these ?



NeuroCut

-
f
CNS or
Skin I Mucosa

Peripheral
Nerves
-


- Multiple organ system



Major Neurocutaneous
Syndromes
1 NF-1 NF-2
.




,


.
2 Tuberous Schrosis
3 .




Sturge-Weber Synd
4 VHL DS
5 PHACE
Synd.
.




6 Ataxia
Telangiectasia
.




Incontinentia
Pigmenti
7
.




8 Linear Naevus
Synd.
.




.
9
Hypomelanosis of Ito

,Key Point : Inhentance



stly
-
> Autosomal Dominant


-except
Struge Weber
sporadic
·
=




Incontinentia
pigmenti X-LDomnant
·
=




Somatic Mosaicism
·
Linear News Synd =

, Neurofibromatosis (Von Recklinghausen DS)
I in 3000 line Births
·



% Inherited
50
>
-




·
Inheritance =
AD
Muth
-
> 50 % - Sporadia
Gene =
·

NF-I
17q11 2
.




gene on




Nomin
I
envolved in
regulation of RAS
pathway
Dx :
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