Let's switch to now to Neurofibromatosis.
Specifically neurofibromatosis comes
in two types. Type I and Type II.
Type I is more common.
For type I neurofibromatosis,
a patient has to have several findings
to make the diagnosis.
First off, they only need two or more
of the following major criteria
This will be
six cafe-au-lait spots
larger than 5mm if prepubertal
or larger than 15mm if
Keep in mind
that these lesions
are sort of like the opposite of
an Ash leaf spot.
These are flat, macular but this time
They look a bit like birthmarks,
which sometimes people have.
So, this can be confusing.
Another criteria for which they need for
two or more for the diagnosis
is having two or more neurofibromas.
Neurofibromas are fleshy, rubbery, firm
and non tender lesions
that show up on the skin.
It's hard to miss them and
you can see some here.
They may also have one plexiform neurofibroma
and that will satifsy that
Another criteria we see commonly on
neurofibromas show up is
And you should keep an eye out for
that for patients with cafe-au-lait spots.
Axillary freckling looks like little
freckles in the armpits.
They may also show up
in the inguinal area.
Another lesion that these patients
may develop is the Optic glioma.
This is a lesion that is behind the eye
that can cause a unilateral
as you can see in this picture here.
One interesting finding, which is very
very rare but is pointed out a lot
sometimes on test questions
is that these patients may have a
because the retinal artery
is pulsing with blood and the eye
can actually be seen to bounce up and down
or in and out as a result of that pulse.
Another finding which is
consistent with the
neurofibromatosis is having two or more
Lisch nodules are seen here in this
These are little brown lesions that are found
in the sclera. They are a little bit easier
to see in blue-eyed individuals
for obvious reasons.
Another typical finding in neurofibromatosis
is a distinctive bony lesion.
This usually happens on long bones
or flat bones and they can show up on both
xray or in this case
on a bone scan.
Another criteria, which is actually
one of the more common criteria
to be satisfied is having a first degree
relative with neurofibromatosis.
Remember, patients with neurofibromatosis
can live long and fruitful lives and
may have children themselves.
And their children are at
an increased risk because it is inherited.
So, there are many other lesions that you
And you should probably read through them
as a way of remembering
and familiarizing yourself of the disease.
Some findings that one might see
in this disease include
sphenoid bone dysplasia.
Congenital hydrocephalus can
Patients may develop pseudoarthrosis.
Patients can develop Dermal
as we've seen in this lecture.
Attention Deficit Hyperactivity Disorder
is associated with neurofibromatosis.
As is speech and language delay
and even Asperger's syndrome.
All of these are potential complications of
neurofibromatosis type I.
Remember, neurofibromatosis comes
in two types. Type I and Type II.
This two can be distinguished in many
but a good way to remember it as a student
when you are just getting started
is Type I will frequently affect the eyes
and type two frequently affects the ears.
The eye finding on type I is the optic glioma
which we discussed earlier.
And in Type II they can have acoustic
The criteria for type II are different
from the criteria for type I
and they bare looking at.
Let's switch gears now to Sturge Weber
Sturge Weber Syndrome
is another neurocutaneous syndrome
where patients will get
classicaly a port-wine stain
as it's pictured here on this patient
usually in a trigeminal distribution
over their face.
is usually present at birth as an
about 70% of patients will have an associated
glaucoma at birth or soon after birth
in the affected area around the eye.
So, these patients need to be seen
by an opthalmologist.
Patients can have neurologic
from inter cranial vascular anomalies
associated with a skin lesion.
So, for example classically,
they may have a seizure disorder,
because of neurologic involvement,
deep to that red lesion.
In Sturge Weber, management is largely
supportive including anti-seizure medication
aspirin prophylaxis if that
complex vascular area is prone to
clot and eventually stroke.
For Cosmesis purposes, we can also provide
laser therapy to these patients
to allow them to look better
as they function throughout their lives.
That is my summary briefly of the
Thanks for your attention.