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 :
Summary
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 :
Summary
