In this lecture, we are going to discuss
the neurocutaneous syndromes.
neuro fibro Mytosis
So let's start with Tuberous Sclerosis.
Tuberous sclerosis is
of autosomal dominant inheritance.
It has variable penetrance. Some patients
are more affected than others.
And the lesion is found on
Roughly 2/3 of cases are sporadic.
And it is a clinical diagnosis
generally based on major
and minor criteria.
It's divided into major and minor features
as are many of diseases like this.
And so we need to decide how to
diagnose it based on
how many of each of these various features
If patients has a definitive diagnosis
if they have two major
or one major and two minor
A probable diagnosis if they
have one major and one minor
and a possible diagnosis if
one major and two minor.
What are the major and minor criteria?
They are extremely long.
And I don't think it is likely to be
For me to memorize all
of the major and minor criteria
but you should have a general familiarity
with things that might present.
Things like in the major
or facial angiofibromas.
In the minor criteria, things like
Bone cysts or gingival fibroma.
So, the point is they can have many
findings in these
Let's go to through some of the really
important major criteria
that we see in the vast majority
The first is the ash leaf spot.
Ash leaf spots are likely to show up
on your exams.
Ash leaf spots are some of the first
findings we find in children
with tuberous sclerosis.
Typically, patients will have an area
that is macular, it is not palpable.
And it is hypopigmented.
It's a flat
slightly less pigmented area
on the skin.
If the patient has one
and you would want to look for more,
a clever trick is to get out at woods lamp
Because an Ash leaf spot that
hasn't yet shown up,
maybe visible by woods lamp.
The next possible finding
usually shows up a little bit later.
In children perhaps 3-5 years of age.
They will develop
Adenomatous Sebaceum are firm
rubbery nodules that spread over the face
as you can see in this child.
This is pathognomonic for this condition.
Next patients may display
a lession on the skin called
a Shagreen Patch.
This usually happens a little bit
later on in older childhood.
the shagreen patch
is a firm rubbery type raised
which is often slightly hyperpigmented
and tends to come out in a patch.
Usually on the trunk or the proximal
And last patients can develop
This is a firm rubbery lesion that
happens around the edge of a nail.
In terms of clinical presentations, there are
a few problems in this children we run into.
We need to remember that are primary
issue is that they are growing tuberous.
This rubbery firm nodules.
And they can happen in many places
within the body.
In the heart, these patients can develop
They can occur in the heart.
They can cause arrhythmias.
Especially if they are at the
Tubers may form in the brain.
And this is the common cause of
epilepsy in these children.
They often develop before the age of four
And this is a minor criteria for these
Lungs, kidneys, and retinas
can also be involved.
Any of these areas can be involved
and they can have deficiencies
as a result of them.
And remember, that all care is supportive.
There is no known cure.
Children and adults with this condition
have a variable presentation
and will treat them supportively depending
on what is going on.