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July 3, 2025 14 mins

Scleroderma: What is it? What are the symptoms? And how is it diagnosed? In this episode, we will explore the history of scleroderma, what is believed to be the cause of scleroderma, including some of the genetics behind it. Tune in to learn more!

 

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Resources:

National Scleroderma Foundation (US): https://scleroderma.org/ 

Scleroderma and Raynaud’s UK: https://www.sruk.co.uk/ 

Scleroderma Australia: https://www.sclerodermaaustralia.com.au/ 

 

References:

https://www.news-medical.net/health/Scleroderma-History.aspx 

https://medlineplus.gov/genetics/condition/systemic-scleroderma/ 

https://www.mayoclinic.org/diseases-conditions/scleroderma/symptoms-causes/syc-20351952 

https://www.hopkinsmedicine.org/health/conditions-and-diseases/scleroderma/scleroderma-diagnosis 

https://www.mayoclinic.org/diseases-conditions/scleroderma/diagnosis-treatment/drc-20351957 

http://www.sclerodermasociety.co.uk/celebrities-supports-scleroderma.html 

https://www.cbsnews.com/news/bob-saget-sister-gay-scleroderma/ 

 

*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*

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Transcript

Episode Transcript

Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Lately, you have been experiencing a lot of joint pain.

(00:03):
You've blamed this on the colder months.
However, even with the warmer weather coming around,
the joint pain has remained.
As you woke up this morning,
you felt incredibly stiff and fatigued.
You felt as if even though you had just woken up,
you never actually fell asleep last night.
You look at your hands
and notice that the skin on them looks odd.
It looks waxy and like it's thicker in some spots.

(00:25):
Because of all this, you decide to go and see a doctor.
(upbeat music)
Hello and Welcome to Anatomy Of Illness.
Today's episode is about scleroderma.

(00:47):
Before we get into the condition,
we are going to start with the history.
So why do we know scleroderma exists?
To begin, we are going to start in ancient Greece,
all the way back with Hippocrates.
He described a condition where people appeared
to have thickened skin.
He would not be the only Greek physician
who recognized this condition.
Moving forward to between 325 and 403 AD with Oribasias

(01:09):
and Paulus Agineta between 625 and 690 AD.
They also both would describe a disease
featuring thickened skin.
After this, there would be minimal mention of scleroderma
for the next few centuries,
with the Middle Ages being a time of questionable
health practices.
So we're going to jump forward to around 1752 or 1753

(01:33):
with the doctor Carlo Cruzio.
Here, he would describe the condition
in patients under his care.
He explained that their skin was hard, would like,
comparing it to dry hide.
One of these patients at the time was a 17-year-old girl
by the name of Patrizia Galiera.
She was admitted to hospital
and was looked after by Dr. Cruzio.
Patrizia's symptoms included hardness of the skin

(01:56):
in various areas like her neck,
with tightness around her mouth.
She also had skin that was cool to touch.
Cruzio would use a variety of methods
in an attempt to help treat Patrizia.
These included baths of warm milk and vapour baths,
bloodletting from the foot, and small doses of quicksilver.
Her skin in a year would actually return back
to its natural state, being normally flexible and soft,

(02:18):
with no evidence of the previous disease,
which of course would stun and interest scholars
and doctors in this time period.
Moving on to 1836.
This is when the word scleroderma
would actually be first used.
This was by Girovambattista Fantonetti.
He used it to describe his patient's skin
who was full of lesions.
The term meaning hard skin, as it came from two Greek words,

(02:40):
sclero, meaning hard, and derma, meaning skin.
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What is scleroderma?
So scleroderma is caused by the body
producing too much collagen.
This then builds up in the body's tissues.
What is collagen?

(03:01):
It is a fibrous protein that we find
in the connective tissues, including the skin.
What causes scleroderma?
Well, we currently don't know what causes scleroderma.
However, it is believed that the immune system
plays a role in this.
It is also suspected that a combination of things
cause scleroderma.
These include immune system problems,
genetics, and environmental triggers.

(03:22):
So what are the risk factors for developing scleroderma?
Anyone can get scleroderma.
However, some people are more at risk for developing it.
These include women between the ages of 30 to 50 years of age.
People of African heritage are more likely
to develop scleroderma, especially at an earlier age.
And they are more likely to have lung and skin involvement.
There are also other risk factors

(03:43):
for developing scleroderma.
These include genetics.
People who have scleroderma may have gene mutations
in the family of genes known as the human leukocyte antigen
genes, or the HLA genes.
HLA was explained in episode 5, if you've
been with us for a while.
But briefly, this group of genes helps
the body distinguish your own body's proteins
from foreign proteins from invaders

(04:05):
like bacterias or viruses.
There is also the STAT4 gene and the IRF5 gene.
The IRF5 gene is seen in diffuse cutaneous systemic scleroderma.
And STAT4 gene is associated with limited cutaneous systemic
scleroderma.
Both of these genes play a role in initiating an immune
response after the body detects a pathogen.

(04:26):
Environmental triggers.
Current research suggests that some people with scleroderma
may have their symptoms or condition triggered
by exposure to certain medications or drugs or even
viruses.
Scleroderma may be also triggered
by repeated exposure to certain chemicals
or harmful substances.
This may be through work.
However, in many people, no environmental trigger
can be found.

(04:47):
Immune system conditions.
Scleroderma is considered to be an autoimmune disease.
This is a condition where your body's immune system
is attacking something in the body.
In this case, it is attacking the connective tissues.
With this, people with scleroderma
often have other medical conditions
that are considered to be autoimmune diseases.
These are conditions like lupus, which
we covered in episode 35, Sjogren's syndrome,

(05:09):
and rheumatoid arthritis, which we covered over in episode 43.
How do we diagnose scleroderma?
When it comes to diagnosing scleroderma,
there is no simple or quick test for the condition.
Instead, it is checking for an array of symptoms and signs
that can help to pinpoint a diagnosis.
As this condition can also resemble several others.
Some of the symptoms that can be used
to help diagnose this condition are Raynaud's phenomenon.

(05:32):
So this is a condition that causes the blood vessels
in the fingers and toes to become
severely constricted when exposed
to cold or emotional distress.
However, not everyone with scleroderma
will have Raynaud's phenomenon.
And not everyone with Raynaud's phenomenon
will have scleroderma.
Other symptoms they will look for
is skin that has become puffy, swollen, or thick suddenly.

(05:52):
With these symptoms, it can inform doctors
to run tests to help get a more specific diagnosis
and exclude other medical conditions.
These include nailfold capillaroscopy.
This test is done in those with Raynaud's phenomenon
and suspected scleroderma.
It looks at the skin near the base of the fingernail.
It checks for changes in the capillaries, which
are the tiny blood vessels.

(06:13):
Doctors may also order a blood test called an ANA test.
This test looks for the presence of autoantibodies
in the blood.
Having autoantibodies in the blood
is not a definitive diagnosis of scleroderma,
as these can be caused by other conditions.
But it helps to inform the diagnosis along
with the other symptoms and test results.
Other tests that may be run include pulmonary function

(06:35):
tests or breathing tests.
These tell you how well the lungs are working.
CT chest scans.
These scans can be done to show if there is lung involvement
and evaluate the severity of it, if there is any.
X-rays.
These can show if there are any changes to the bones
or the soft tissues that do occur
in cases of scleroderma.
Echocardiograms.
This is an ultrasound of the heart.

(06:55):
This is done to check the structure
and function of the heart.
It can also show if there are any significant changes.
Electrocardiograms.
This is also known as an EKG or an ECG,
if you watch those medical shows.
This checks the electrical signals of the heart.
With this, it can show if there are
any abnormal rhythms in the heart due to scleroderma damage
to the heart.
Motility studies.

(07:16):
These check how well food passes through the digestive system,
as scleroderma can cause gastrointestinal problems.
With all of these tests, a doctor
can decide whether or not it is scleroderma
and where in the body is being affected by scleroderma.
What tests that are run will be determined by the symptoms
of a specific case.
We will get right into the symptoms and presentation
right after this little break.

(07:39):
[MUSIC PLAYING]
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What symptoms might you have if you had scleroderma?
Scleroderma can cause symptoms related to various body
systems.
This really depends on what scleroderma is affecting.

(08:01):
For this, we are going to break down the symptoms
into the areas of the body that they affect.
For those that have their skin affected by scleroderma,
the symptoms they may experience include, in the early stages,
you may have swelling and itchiness.
The colour of the skin can even be affected, either
by becoming lighter or darker.
It can also become shiny due to the tightness of the skin.
You may also experience skin hardening or skin tightening,

(08:24):
as these are the main symptoms of scleroderma.
This normally begins in the fingers, hand, feet, and face.
Some people will also experience skin thickening.
The skin thickening can also occur
in the forearms, the upper arms, chest, abdomen, thighs,
and the lower legs.
With this condition, you may also
experience small red spots on your hands and face.
This is called telangiectasia.

(08:45):
You may also have calcium deposits under the skin.
These are often under the fingertips.
This actually shows up as bumps on X-rays.
People with scleroderma can also experience Raynaud's phenomenon.
This is an unusual response to cold or emotional distress
that causes exaggerated contraction of the small blood
vessels in the fingers and the toes.
When this occurs, it can cause pain or numbness.

(09:07):
They can turn white, gray, red, or even blue.
However, Raynaud's phenomenon can
occur outside of scleroderma.
Scleroderma can also cause digestive symptoms,
as it can affect any part of the digestive system,
from the esophagus to the rectum.
These symptoms include heartburn, difficulty
swallowing, bloating, constipation, diarrhoea,
and fecal incontinence.

(09:27):
You can also experience heart and lung-related symptoms
if scleroderma affects the heart or the lungs.
With this, it can cause dizziness, shortness
of breath, and a decreased tolerance to exercise.
This is due to scarring in the lung tissue that
can be caused by scleroderma.
Over time, the shortness of breath
can worsen due to increased scar tissue.
This condition can also cause pulmonary hypertension.

(09:49):
This is a blood pressure increase
in the circulation between the heart and the lungs.
This then increases your shortness of breath.
Pulmonary hypertension can also cause
fluid buildup in the lungs, feet,
and even around the heart.
Scleroderma affecting the heart can also
cause irregular heartbeats and heart failure.
What complications should a doctor
be aware of when it comes to scleroderma?
When it comes to scleroderma complications,

(10:11):
it can affect a wide range of different body parts
and can vary in severity from mild all the way to serious.
Let's go over some of the body parts and the complications
that can occur due to scleroderma,
starting with the fingertips.
In scleroderma, people with the condition
can experience Raynaud's phenomenon.
This can become so severe that the restriction to blood flow
can permanently damage the fingertips.

(10:33):
This can lead to several things, including
skin pits, sores, or even in severe cases,
tissue on the fingertips dying.
Joints, flexibility and movement in the joints,
especially the hands, can be restricted
due to the skin of the hands becoming very tight.
Teeth, with scleroderma, it can affect the skin of the face,
causing severe facial tightening.
This in turn causes the mouth to become smaller and narrower,

(10:55):
so you can't open your mouth very wide.
This can make it difficult to brush your teeth.
You may also produce less saliva,
which also increases the risk of tooth decay again.
Digestive system, depending on where scleroderma is affecting,
it depends on what kind of complications
you may see in the digestive system.
For example, those with scleroderma
higher in the digestive system, it
can cause heartburn and difficulty swallowing.

(11:15):
In other cases, it can cause cramps, bloating, constipation,
and diarrhoea.
With scleroderma, some people may also
have difficulty absorbing nutrients
due to bacterial overgrowth found in their intestines.
Kidneys, there is a serious complication
with scleroderma involving the kidneys.
This is called scleroderma renal crisis.
With this condition, there is a sudden rise in blood pressure.

(11:36):
Then there is rapid kidney failure.
This is a condition that needs to be treated quickly
to preserve the kidney function.
Heart, scleroderma can cause several things
when it comes to the heart.
The scarring inside of the heart can
increase the risk of irregular heartbeats and heart failure.
Scleroderma can also cause inflammation
of the sac surrounding the heart.
This sac is often known as the pericardium.

(11:56):
Lungs, there can be scarring in the lung tissue that
causes shortness of breath and reduces
your tolerance for exercise.
Scleroderma can also cause high blood pressure
in the arteries to the lungs.
This is pulmonary hypertension.
How do we treat scleroderma?
Scleroderma is not a condition that can be currently cured.
So there is no way to stop or cure
the overproduction of collagen that this condition causes.

(12:16):
However, what we can currently do
is manage the complications that are related to the condition.
So we can use medication and various therapies
to help manage the symptoms related to this condition.
One of the first things that is recommended
is using moisturizers to prevent the skin from drying out.
Light therapy, this is a therapy that uses bright focused UV
light, it can help to treat the thickened skin.

(12:37):
However, again, it cannot cure it.
Immunosuppressants, these are to stop your immune system
from damaging the healthy cells.
Dilating blood vessels, using blood pressure medications
that dilate your blood vessels, this
may help with Raynaud's phenomenon.
Stem cell transplants, those with severe symptoms
may need stem cell transplants.
These help to replace the damaged cells
with new healthy donor cells.

(12:58):
Are there any famous people with scleroderma?
There are no famous people who have scleroderma as a condition.
However, several have had family members with the condition.
These include Queen Latifah.
Her mother had scleroderma, which
caused scarring in her lungs, which
led to her requiring oxygen.
Queen Latifah was a carer for her mother
before her mother passed in 2018.
There was also Bob Saget's sister.

(13:19):
She passed back in 1994 after several years
of having the condition and also having several misdiagnoses
before eventually being diagnosed.
This led to Bob Saget's work in raising funds
for the Scleroderma Research Foundation
to help others with the condition.
If you'd like to check out a film featuring a character
with scleroderma, you should check out For Hope.
This film is actually based on the true story

(13:40):
of Bob Saget's sister who passed away from scleroderma.
If you would like to check out a foundation, for those
in the US, there is the National Scleroderma Foundation.
Their goal is to raise awareness of scleroderma,
advance the research into the condition,
and to support people and their families
experiencing the condition.
For those in the UK, there is Scleroderma and Raynaud's UK.
They aim to improve the awareness and understanding

(14:02):
of both scleroderma and Raynaud’s,
as well as fund research into these conditions.
And for those in Australia, there is Scleroderma Australia.
They aim to increase awareness of scleroderma,
increasing support for those experiencing scleroderma,
and also coordinate funding for research into scleroderma.
If you want to check out the sources, social media links,
or any other links, you can head to anatomyofillness.com.

(14:22):
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Otherwise, stick around for the next episode.
(upbeat music)
Why did the mole go to a party?

(14:47):
Because it heard it was going to be
a real skin-tingling experience.
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