August 21, 2025 • 20 mins
Congenital Ichthyosis: What is it? What are the symptoms? What are the types? In this episode, we will go over the history of congenital ichthyosis, the genetics and causes of these conditions, along with some of the treatment methods that are used today. Tune in to learn more!
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Resources:
My Skin Could Kill Me (Documentary YouTube): https://www.youtube.com/watch?v=aTsCHw7gDS4
FIRST (Global): https://www.firstskinfoundation.org/
References:
https://www.niams.nih.gov/health-topics/ichthyosis
https://www.nhs.uk/conditions/ichthyosis/
https://emedicine.medscape.com/article/1112753-overview
https://link.springer.com/chapter/10.1007/978-3-642-73650-6_2
https://pmc.ncbi.nlm.nih.gov/articles/PMC10919709/
https://pmc.ncbi.nlm.nih.gov/articles/PMC5558415/
https://jamanetwork.com/journals/jamapediatrics/article-abstract/1175910
https://www.wjpps.com/wjpps_controller/abstract_id/5545
https://pmc.ncbi.nlm.nih.gov/articles/PMC4668483/
https://www.niams.nih.gov/health-topics/ichthyosis/diagnosis-treatment-and-steps-to-take
https://pmc.ncbi.nlm.nih.gov/articles/PMC11620771/
https://dermnetnz.org/topics/ichthyosis
https://dermnetnz.org/topics/collodion-baby
https://dermnetnz.org/topics/erythroderma
https://my.clevelandclinic.org/health/diseases/harlequin-ichthyosis
https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/
*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):
you went into labor prematurely.
(00:01):
You were worried that there would be complications
due to this, but everyone assured you
that everything would be fine.
Your baby would come out perfect and healthy.
There'd be no signs during your pregnancy
to tell you otherwise.
As you finally get to see your little one,
you notice that they look strange.
There is a thin, shiny yellow layer
that looks to be on top of her skin.
Her skin looks cracked.
(00:22):
It's cracked into odd, almost armor-like plates.
Her eyes are red,
almost looking as if they were covered by blood.
Before you can even hold your baby,
the doctors rush her out of the room,
claiming she needs to go to the neonatal unit.
(uplifting music)
Hello and Welcome to Anatomy Of Illness.
(00:52):
Today's episode is about congenital ichthyosis.
Before we get into the condition,
we are going to start with the history.
So why do we know congenital ichthyosis exists?
But first, exciting news.
Our Kickstarter pre-launch page
for the second season of Anatomy Of Illness is now live.
You don't want to miss it.
Check out the link in the episode description
and be sure to sign up for notifications.
(01:14):
Your support is crucial
for bringing our second season to life.
And by signing up, you'll be among the first
to know when our campaign launches.
We have some amazing rewards lined up,
including exclusive bonus episodes
and limited edition merchandise.
Help us spread the word by sharing our campaign
with friends and anyone you think would be interested.
Together, we can make the second season a reality.
(01:37):
Don't forget to sign up
through the link in the episode description.
Now onto the history of congenital ichthyosis.
We begin in the year 1731.
On the 16th of March,
this is when we would have the first recorded account
of a case of ichthyosis.
This is actually presented
by the English astronomer, John Machin.
He would present the case of a 14-year-old boy
(01:58):
by the name of Edward Lambert.
He claimed the boy had cuticular distemper.
Edward actually had a severe form of ichthyosis.
In his case, both of his parents
did not actually have the condition.
However, Edward did.
Later in life, Edward married and interestingly enough,
he would father six children
with the exact same condition as him.
This was the beginning of the famous Lambert family,
(02:20):
Edward being considered the founding member.
Even with his severe condition,
Edward Lambert would live a long life,
passing away at the age of 90 in the year 1806
due to an unrelated accident.
The case of the Lambert family is an interesting one
as they would use this condition
as a means of earning a living.
Edward, along with his affected children,
would travel throughout Europe
calling themselves porcupine men,
(02:42):
exposing themselves to various people for money.
And some would even claim that they were in fact
a new species of man.
Interestingly enough with this group,
two of his grandchildren in 1801 who were affected
would go on to falsely claim that only men in the family
could have this condition.
This would lead to a very interesting issue
where in 1933, Cockayne would write his own paper
(03:06):
about the Lambert family pedigree.
In this, he would discuss another two generations
that came after the grandchildren of Edward Lambert.
These showed only male to male transmission.
However, these two generations did not actually exist.
This was used as a way of proving in many medical textbooks
that Y chromosome inheritance existed in this disease.
(03:28):
This was actually disproven in 1958
by Penrose and Stern who corrected the myth.
This was after extensively studying the family records
and their parish history.
They found that the family
actually had autosomal dominant inheritance,
meaning you only need one affected gene,
not an affected Y chromosome.
So it was not related to the sex chromosomes,
(03:49):
but just one of the regular chromosomes,
meaning was not male passed on.
It was passed on by anyone affected.
The famous Lambert family have long since died out,
especially by the time of Penrose and Stern.
So the ability to examine them further was not possible.
So the specific kind of congenital ichthyosis
that they had is long lost to history.
But based on reports of this family,
(04:11):
there is a potential diagnosis for them.
As they had no bullous lesions,
nor did they have erythroderma,
so no large blisters or reddening of the skin,
this most likely rules out bullous ichthyotic erythroderma.
It does, however,
more resemble the diagnosis of ichthyosis Curth-Macklin.
This being due to several things mentioned
(04:33):
in their medical histories,
along with the description of porcupine skin,
as this form can cause this appearance.
Due to the fame that this family accrued,
it would bring attention to ichthyosis
and would actually lead to ichthyosis receiving its name.
This would be in the year 1808.
The condition received its name
in a book written by Robert Willan,
who would write an entire chapter on this family alone.
(04:56):
The name ichthyosis may be considered
a bit of an exaggeration
when you look at the word it stems from,
this being the Greek word ichthys, meaning fish,
being used to describe the difference in the skin
that these conditions cause.
Now that we have discussed the Lambert family,
we should jump back in time,
as there were more people in history
to experience congenital ichthyosis
(05:16):
than just those in this family.
We head all the way back to the 5th of April, 1750.
Here we meet with Reverend Oliver Hart.
He was the first to describe a case of harlequin ichthyosis
in Charlestown, South Carolina.
The baby would pass away 48 hours after being born,
harlequin ichthyosis being the most severe form
and the rarest form of the types of ichthyosis.
(05:39):
Reverend Hart would write his own account of what he saw.
"I went to see a most deplorable object of a child,
born the night before of one Mary Evans in Chas’town.
It was surprising to all who beheld it,
and I scarcely know how to describe it.
The skin was dry and hard
and seemed to be cracked in many places,
somewhat resembling the scales of a fish.
The mouth was large and round and open.
(06:01):
It had no external nose,
but two holes where the nose should have been.
The eyes appeared to be lumps of coagulated blood turned out
about the bigness of a plum, ghastly to behold.
It had no external ears, but holes where the ears should be.
The hands and feet appeared to be swollen,
were cramped up and felt quite hard.
The back part of the head was much open.
(06:23):
It made a strange kind of noise, very low,
which I cannot describe."
Moving on to 1806, we would see the inheritance pattern
for ichthyosis vulgaris described by Alibert.
Then in 1835, what may have been the first family
to be discovered to have X-linked recessive ichthyosis
was described by Rayer.
By the end of the 19th century, Peukert would come up
(06:44):
with stricter guidelines on what classifies as ichthyosis.
He believed that it must be a general involvement
of the skin, but not conditions
like palmoplantar keratosis, leading to Ricke
to create his own classification system
for congenital ichthyosis.
With this, there were three different classifications,
ichthyosis congenita one.
This corresponded to the harlequin type,
(07:04):
which was described above in Reverend Hart's description.
Ichthyosis congenita two, this corresponded to lamellar
ichthyosis and ichthyosis congenita three.
This mainly corresponded to those
with X-linked recessive ichthyosis type.
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What causes ichthyosis?
(07:25):
Well, in the case of congenital ichthyosis,
this is an inherited condition.
Depending on the type will depend on the gene affected.
Considering that there are actually more
than 30 different types that come under the congenital
ichthyosis umbrella.
With this, we see several different inheritance patterns
that can cause the symptoms.
These include dominant inheritance.
This means that you only need one copy
(07:46):
of the affected gene to have the condition.
So if a parent has it, there is a 50% chance
their future child will have it.
Recessive inheritance.
With this form, both parents carry a copy of the gene,
however, neither show signs of the condition.
You need to have two copies of the gene mutation
to display symptoms.
If you only have one, then you will also be a carrier.
There's also the X-linked inheritance pattern.
(08:08):
In this form, it is linked to your sex chromosomes.
So when it comes to your mother, she has two X chromosomes,
whereas your father has an X and a Y chromosome.
When it comes to this one, it is technically recessive.
When it comes to women, you need two affected genes
to display the symptoms.
Whereas with men, 'cause they only have one X chromosome,
they will have the condition if there is a mutated gene.
(08:30):
There can also be spontaneous mutations.
What this essentially means is that the mutation
has never occurred previously in your family,
but during development or during the creation
of either the egg or the sperm, the mutation has occurred,
depending on which one will depend on if there is mosaic,
which means it affects many, but not all of your cells,
or if it affects all of your cells.
With this, we primarily see it in dominant forms
(08:52):
and in X-linked ichthyoses.
How is ichthyosis classified into groups
and what are these groups?
Classifications are related to the genes affected,
the inheritance patterns,
and the proteins affected by the condition.
There's also the common classification,
as these types are the most common forms of the ichthyoses.
So the different classifications are (09:10):
Common ichthyoses.
This includes ichthyosis vulgaris.
This being the most common form,
which is actually 95% of cases of ichthyosis.
This form is caused by a mutation in the FLG gene.
This affects the filaggrin protein.
This form often does not show up at the time of birth.
(09:30):
However, symptoms will begin to appear
by the time the child reaches the age of five.
The skin in this form will be dry
and have fine white scales.
It is mostly seen on the abdomen and the arms and legs.
However, not in the creases of the arms or the legs.
The palms are also excessively lined.
It causes keratosis pilaris,
which is a keratin accumulation in the hair follicles.
(09:53):
And in about 50% of cases, there will also be atopic eczema.
The other type of ichthyosis in the common classification
is recessive X-linked ichthyosis.
This is caused by a mutation in the STS gene,
which creates the enzyme steroid sulfase.
This form of ichthyosis is only found in males.
In this form, we see the symptom at the time of birth
(10:15):
or within the first six months.
The first symptoms being a generalized fine
or rhomboid scale.
This is usually gray or brown.
We see the scaling affecting the neck, trunk, bottom,
and limbs most prominently.
In this form, the palms are normal,
unlike in the previous.
In 50% of cases, there are corneal opacities.
So this is a clouding of the clear front part of the eye,
(10:35):
which is the cornea.
Also in between 5 to 20% of cases of this,
it can also cause undescended testicles.
Those were the common ichthyoses.
There are also other classifications
like the autosomal recessive congenital ichthyoses.
With these forms, they are all inherited
in an autosomal recessive pattern,
meaning both parents carry the gene
(10:56):
but do not display symptoms.
The child with two copies of the mutated gene has symptoms.
When it comes to the child being born
in the case of these conditions,
they are encased in a colloidon membrane.
This is a yellow, tight, and shiny film over the skin.
This will eventually crack and shed.
Underneath this will be the skin condition.
Not every baby born with a colloidon membrane
(11:16):
will have a form of autosomal recessive congenital ichthyoses.
However, this is the most common cause.
Surprisingly, in 10% of cases of colloidon membranes,
the child will actually have healthy skin.
The colloidon membrane is often accompanied
with being born prematurely.
In this classification, we see harlequin ichthyosis.
This is caused by a mutation in the ABCA12 gene.
(11:40):
This type has a severe colloidon membrane
drooping lower eyelids.
This is known as ectropion.
Out-turned lips, this is eclabium, and contractures.
Contractures being where the tissue
between the joints has shortened,
leaving the joint in a permanently bent or abnormal position.
Lamallar ichthyosis.
This form, we see dark plate-like scaling
(12:00):
present all over the body.
This includes in the creases of the arms and the legs.
There's also the bathing suit variant of lamallar ichthyosis.
This form only affects areas that are warmer,
like the trunk and the scalp.
Non-bulbous congenital ichthyosiform erythroderma.
This form causes fine white semi-adherent scales
and erythroderma, which is the reddening of the skin.
(12:23):
Depending on the gene affected in this form,
there may or may not be palmo plantar keratoderma,
which is the thickening of the skin on the palms
of the hands and the soles of the feet.
There's also the keratinopathic ichthyoses.
As the name suggests, these are all forms of ichthyosis
that are caused by mutations affecting the keratin.
In these forms, there are symptoms present at birth.
(12:43):
The skin on birth will be moist, red, and tender.
After a few weeks, thick white to brown scaling
will appear on the extensor joints.
These are joints that extend your limbs.
Think of (straightening) the knees, that's an extension.
In these forms, fluid-filled blisters can occur.
These can also become infected.
A form of keratinopathic ichthyosis
is epidermolytic ichthyosis,
(13:05):
which is caused by a mutation
in either the KRT1 or KRT10 genes.
This will depend on the case.
This form can cause annular polycyclic erythematous plaques.
This essentially means it can cause
multiple red circular lesions on the skin.
With another form called ichthyosis Curth-Macklin,
which is also caused by a mutation in the KRT1 gene,
(13:27):
this can cause a porcupine or spiky appearance
in the skin due to the varied thickness.
And when it comes to keratinopathic ichthyoses,
the KRT1 mutations have the palmoplantar keratoderma,
so the thickening of the skin on both the palms
of the hands and the soles of the feet.
With keratinopathic ichthyoses,
there can be a failure to grow.
There are also forms of congenital ichthyoses
(13:49):
that are caused by syndromes.
These include conditions like Refsum's disease,
Netherton syndrome, and Sjogren-Larsson.
So the skin symptoms come along with several other symptoms.
What causes the symptoms to occur in ichthyosis?
When it comes to ichthyosis,
there are changes in how the skin grows and sheds.
Depending on the specific version of ichthyosis
(14:09):
and the genes involved will depend on how the condition
actually affects the growth and shedding of the skin.
So it can affect the skin cycle
in essentially three different ways.
It can cause your skin cells to grow faster
than they are shed.
These skin cells can grow at a normal rate,
however, they can shed at a slower rate,
or the skin cells can shed at a faster rate
than they can grow.
All of these are not desirable and can cause issues.
(14:31):
Can you develop ichthyosis later in life?
Yes.
However, this is known as acquired ichthyosis
rather than congenital ichthyosis.
This is because you acquired it later in life.
When it comes to acquired ichthyosis,
this is a sign of something else going on in the body,
not its own unique condition like the hereditary forms.
The acquired form can be caused by a variety of conditions.
(14:54):
So this condition can be found to be caused by cancers
like Hodgkin lymphoma, which we discussed in episode 48,
autoimmune illnesses like lupus,
which we covered in episode 35,
metabolic diseases like chronic kidney disease
and chronic liver disease,
can also be from medications like hydroxyurea,
kava, nicotinic acid, and some targeted cancer therapies,
(15:15):
or even from infections like leprosy and AIDS.
Acquired ichthyosis resembles ichthyosis vulgaris,
but due to its development in adulthood,
it is not the same condition.
How you treat it will depend on how you develop it.
So if it's from a medication, stopping the medication
and treating the dryness until it goes away.
If it's from an underlying condition,
treating the underlying condition.
(15:36):
How do we diagnose congenital ichthyosis?
When it comes to ichthyosis,
the diagnosis normally begins with a physical examination
along with discussing family history and medical history
of you or your child experiencing these symptoms.
After this, a few tests may be ordered
to get a clearer picture of what is going on.
These include genetic testing.
As congenital ichthyosis is a genetic condition,
(15:57):
using either a blood test or a cheek swab
to test for known mutations that can cause these symptoms.
Skin biopsy.
A skin biopsy removes a piece of the skin to be tested.
This can show several things
depending on the form of ichthyosis.
We'll get right into the symptoms and presentation
right after this little break.
(upbeat music)
This podcast is supported by listeners like you
(16:27):
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What symptoms might you have if you had ichthyosis?
Well, the symptoms you might have
will really depend on the type of ichthyosis.
However, there are several symptoms
that can be seen across these conditions.
These include dry skin, redness of the skin,
cracking of the skin, itching.
You may also experience scales appearing on the skin.
These can be white, gray, or brown.
They can also appear in several different ways.
(16:49):
They may be small and flaky.
They may appear as large, dark plate-like scales,
or they may appear as hard, armour-like scales.
This will, of course, depend on your condition.
Other symptoms may also be present,
but this will vary based on which form of ichthyosis
you happen to have.
These include thickening of the skin.
This is on the palms of the hand
and the soles of the feet.
Tightening of the skin.
(17:10):
Having difficulty flexing some of your joints.
Experiencing blisters.
These can break open and lead to wounds.
Dry eyes and experiencing difficulty
when it comes to closing your eyelids.
Inability to sweat or perspire.
This is due to the scales, clogging the sweat glands.
Difficulty hearing.
Hair loss or fragile hair.
What should a doctor be aware of
when it comes to congenital ichthyosis?
(17:32):
There are several potential complications
a doctor should be aware of
when it comes to congenital ichthyosis.
These include skin infections.
With this condition, blisters and other wounds
can become infected.
In some cases, they may even turn septic.
This is, of course, a medical emergency.
Having decreased perspiration, sweating less,
can lead to overheating.
Overheating can lead to heat stroke,
which is, of course, dangerous as well.
(17:53):
Electrolyte imbalances and dehydration.
Due to the skin being used to keep bacteria out
and keep fluid in, when there are issues with the skin,
there can be fluid leaking out of the skin.
This can cause severe dehydration.
Certain forms of congenital ichthyosis
can affect the hearing or eyesight.
How do we treat congenital ichthyosis?
When it comes to inherited ichthyosis, there is no cure.
(18:14):
These conditions are managed through a variety of methods.
These include using non-soap cleansers for bathing.
This is due to soap being potentially drying,
so it makes the dryness worse.
Bathing in salt water.
Using a pumice stone or a form of exfoliating sponge
to help remove the scales.
Using moisturisers and moisturising creams,
(18:36):
especially those containing urea, salicylic acid,
or alpha hydroxy acids.
In more severe cases,
the use of oral retinoids may also help.
Vitamin D supplements may also be used
in severe cases of ichthyosis.
When it comes to secondary bacterial infections,
they will also use antibiotics.
What will be used in the treatment of congenital ichthyosis
(18:56):
will differ case to case.
This is due to many conditions coming under the umbrella
of congenital ichthyosis.
What may work best for one may not work well for another,
so be sure to work with your doctor
to find the treatment best for you.
Although there are not really any famous cases
of congenital ichthyosis,
there are documentaries you can check out
that show you the condition
and what it is like to experience.
(19:17):
One I recommend is "My Skin Could Kill Me."
This documentary is available on YouTube
and I have provided a link for it in the description.
It follows two families that have children
with harlequin ichthyosis.
This being the most severe form of the condition.
It shows their day-to-day life
following what they do to adapt to this condition.
Viewer discretion is advised,
as this documentary does show testing,
(19:38):
treatment, and medical imagery,
which some may find confronting
considering that this condition is severe.
If you would like to check out our foundation,
for those everywhere, there is The FIRST Foundation.
This foundation aims to improve the lives
of those experiencing ichthyosis
and related skin conditions.
They do this by providing funding for research,
up-to-date information on these conditions,
and providing support networks
for those experiencing congenital ichthyosis
(20:00):
and similar conditions.
This is the main foundation for this condition,
and through their support,
eight more genetic causes of congenital ichthyosis
and similar conditions have been found.
If you want to check out the sources,
social media links, or any other links,
you can head to anatomyofillness.com.
If you enjoyed this episode and would like to hear more,
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If you would like to join our community,
you can join us on Discord or Instagram.
(20:21):
Otherwise, stick around for the next episode.
(upbeat music)
(upbeat music)
Did you know that the skin can actually flex?
This is due to the skin having its own muscles,
(20:42):
these being the arrector pili muscles,
which are located inside of your hair follicles.
It is these muscles we see activating
when you have goosebumps,
causing your hairs to stand up straight.
you went into labor prematurely.
(00:01):
You were worried that there would be complications
due to this, but everyone assured you
that everything would be fine.
Your baby would come out perfect and healthy.
There'd be no signs during your pregnancy
to tell you otherwise.
As you finally get to see your little one,
you notice that they look strange.
There is a thin, shiny yellow layer
that looks to be on top of her skin.
Her skin looks cracked.
(00:22):
It's cracked into odd, almost armor-like plates.
Her eyes are red,
almost looking as if they were covered by blood.
Before you can even hold your baby,
the doctors rush her out of the room,
claiming she needs to go to the neonatal unit.
(uplifting music)
Hello and Welcome to Anatomy Of Illness.
(00:52):
Today's episode is about congenital ichthyosis.
Before we get into the condition,
we are going to start with the history.
So why do we know congenital ichthyosis exists?
But first, exciting news.
Our Kickstarter pre-launch page
for the second season of Anatomy Of Illness is now live.
You don't want to miss it.
Check out the link in the episode description
and be sure to sign up for notifications.
(01:14):
Your support is crucial
for bringing our second season to life.
And by signing up, you'll be among the first
to know when our campaign launches.
We have some amazing rewards lined up,
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Help us spread the word by sharing our campaign
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Together, we can make the second season a reality.
(01:37):
Don't forget to sign up
through the link in the episode description.
Now onto the history of congenital ichthyosis.
We begin in the year 1731.
On the 16th of March,
this is when we would have the first recorded account
of a case of ichthyosis.
This is actually presented
by the English astronomer, John Machin.
He would present the case of a 14-year-old boy
(01:58):
by the name of Edward Lambert.
He claimed the boy had cuticular distemper.
Edward actually had a severe form of ichthyosis.
In his case, both of his parents
did not actually have the condition.
However, Edward did.
Later in life, Edward married and interestingly enough,
he would father six children
with the exact same condition as him.
This was the beginning of the famous Lambert family,
(02:20):
Edward being considered the founding member.
Even with his severe condition,
Edward Lambert would live a long life,
passing away at the age of 90 in the year 1806
due to an unrelated accident.
The case of the Lambert family is an interesting one
as they would use this condition
as a means of earning a living.
Edward, along with his affected children,
would travel throughout Europe
calling themselves porcupine men,
(02:42):
exposing themselves to various people for money.
And some would even claim that they were in fact
a new species of man.
Interestingly enough with this group,
two of his grandchildren in 1801 who were affected
would go on to falsely claim that only men in the family
could have this condition.
This would lead to a very interesting issue
where in 1933, Cockayne would write his own paper
(03:06):
about the Lambert family pedigree.
In this, he would discuss another two generations
that came after the grandchildren of Edward Lambert.
These showed only male to male transmission.
However, these two generations did not actually exist.
This was used as a way of proving in many medical textbooks
that Y chromosome inheritance existed in this disease.
(03:28):
This was actually disproven in 1958
by Penrose and Stern who corrected the myth.
This was after extensively studying the family records
and their parish history.
They found that the family
actually had autosomal dominant inheritance,
meaning you only need one affected gene,
not an affected Y chromosome.
So it was not related to the sex chromosomes,
(03:49):
but just one of the regular chromosomes,
meaning was not male passed on.
It was passed on by anyone affected.
The famous Lambert family have long since died out,
especially by the time of Penrose and Stern.
So the ability to examine them further was not possible.
So the specific kind of congenital ichthyosis
that they had is long lost to history.
But based on reports of this family,
(04:11):
there is a potential diagnosis for them.
As they had no bullous lesions,
nor did they have erythroderma,
so no large blisters or reddening of the skin,
this most likely rules out bullous ichthyotic erythroderma.
It does, however,
more resemble the diagnosis of ichthyosis Curth-Macklin.
This being due to several things mentioned
(04:33):
in their medical histories,
along with the description of porcupine skin,
as this form can cause this appearance.
Due to the fame that this family accrued,
it would bring attention to ichthyosis
and would actually lead to ichthyosis receiving its name.
This would be in the year 1808.
The condition received its name
in a book written by Robert Willan,
who would write an entire chapter on this family alone.
(04:56):
The name ichthyosis may be considered
a bit of an exaggeration
when you look at the word it stems from,
this being the Greek word ichthys, meaning fish,
being used to describe the difference in the skin
that these conditions cause.
Now that we have discussed the Lambert family,
we should jump back in time,
as there were more people in history
to experience congenital ichthyosis
(05:16):
than just those in this family.
We head all the way back to the 5th of April, 1750.
Here we meet with Reverend Oliver Hart.
He was the first to describe a case of harlequin ichthyosis
in Charlestown, South Carolina.
The baby would pass away 48 hours after being born,
harlequin ichthyosis being the most severe form
and the rarest form of the types of ichthyosis.
(05:39):
Reverend Hart would write his own account of what he saw.
"I went to see a most deplorable object of a child,
born the night before of one Mary Evans in Chas’town.
It was surprising to all who beheld it,
and I scarcely know how to describe it.
The skin was dry and hard
and seemed to be cracked in many places,
somewhat resembling the scales of a fish.
The mouth was large and round and open.
(06:01):
It had no external nose,
but two holes where the nose should have been.
The eyes appeared to be lumps of coagulated blood turned out
about the bigness of a plum, ghastly to behold.
It had no external ears, but holes where the ears should be.
The hands and feet appeared to be swollen,
were cramped up and felt quite hard.
The back part of the head was much open.
(06:23):
It made a strange kind of noise, very low,
which I cannot describe."
Moving on to 1806, we would see the inheritance pattern
for ichthyosis vulgaris described by Alibert.
Then in 1835, what may have been the first family
to be discovered to have X-linked recessive ichthyosis
was described by Rayer.
By the end of the 19th century, Peukert would come up
(06:44):
with stricter guidelines on what classifies as ichthyosis.
He believed that it must be a general involvement
of the skin, but not conditions
like palmoplantar keratosis, leading to Ricke
to create his own classification system
for congenital ichthyosis.
With this, there were three different classifications,
ichthyosis congenita one.
This corresponded to the harlequin type,
(07:04):
which was described above in Reverend Hart's description.
Ichthyosis congenita two, this corresponded to lamellar
ichthyosis and ichthyosis congenita three.
This mainly corresponded to those
with X-linked recessive ichthyosis type.
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What causes ichthyosis?
(07:25):
Well, in the case of congenital ichthyosis,
this is an inherited condition.
Depending on the type will depend on the gene affected.
Considering that there are actually more
than 30 different types that come under the congenital
ichthyosis umbrella.
With this, we see several different inheritance patterns
that can cause the symptoms.
These include dominant inheritance.
This means that you only need one copy
(07:46):
of the affected gene to have the condition.
So if a parent has it, there is a 50% chance
their future child will have it.
Recessive inheritance.
With this form, both parents carry a copy of the gene,
however, neither show signs of the condition.
You need to have two copies of the gene mutation
to display symptoms.
If you only have one, then you will also be a carrier.
There's also the X-linked inheritance pattern.
(08:08):
In this form, it is linked to your sex chromosomes.
So when it comes to your mother, she has two X chromosomes,
whereas your father has an X and a Y chromosome.
When it comes to this one, it is technically recessive.
When it comes to women, you need two affected genes
to display the symptoms.
Whereas with men, 'cause they only have one X chromosome,
they will have the condition if there is a mutated gene.
(08:30):
There can also be spontaneous mutations.
What this essentially means is that the mutation
has never occurred previously in your family,
but during development or during the creation
of either the egg or the sperm, the mutation has occurred,
depending on which one will depend on if there is mosaic,
which means it affects many, but not all of your cells,
or if it affects all of your cells.
With this, we primarily see it in dominant forms
(08:52):
and in X-linked ichthyoses.
How is ichthyosis classified into groups
and what are these groups?
Classifications are related to the genes affected,
the inheritance patterns,
and the proteins affected by the condition.
There's also the common classification,
as these types are the most common forms of the ichthyoses.
So the different classifications are (09:10):
Common ichthyoses.
This includes ichthyosis vulgaris.
This being the most common form,
which is actually 95% of cases of ichthyosis.
This form is caused by a mutation in the FLG gene.
This affects the filaggrin protein.
This form often does not show up at the time of birth.
(09:30):
However, symptoms will begin to appear
by the time the child reaches the age of five.
The skin in this form will be dry
and have fine white scales.
It is mostly seen on the abdomen and the arms and legs.
However, not in the creases of the arms or the legs.
The palms are also excessively lined.
It causes keratosis pilaris,
which is a keratin accumulation in the hair follicles.
(09:53):
And in about 50% of cases, there will also be atopic eczema.
The other type of ichthyosis in the common classification
is recessive X-linked ichthyosis.
This is caused by a mutation in the STS gene,
which creates the enzyme steroid sulfase.
This form of ichthyosis is only found in males.
In this form, we see the symptom at the time of birth
(10:15):
or within the first six months.
The first symptoms being a generalized fine
or rhomboid scale.
This is usually gray or brown.
We see the scaling affecting the neck, trunk, bottom,
and limbs most prominently.
In this form, the palms are normal,
unlike in the previous.
In 50% of cases, there are corneal opacities.
So this is a clouding of the clear front part of the eye,
(10:35):
which is the cornea.
Also in between 5 to 20% of cases of this,
it can also cause undescended testicles.
Those were the common ichthyoses.
There are also other classifications
like the autosomal recessive congenital ichthyoses.
With these forms, they are all inherited
in an autosomal recessive pattern,
meaning both parents carry the gene
(10:56):
but do not display symptoms.
The child with two copies of the mutated gene has symptoms.
When it comes to the child being born
in the case of these conditions,
they are encased in a colloidon membrane.
This is a yellow, tight, and shiny film over the skin.
This will eventually crack and shed.
Underneath this will be the skin condition.
Not every baby born with a colloidon membrane
(11:16):
will have a form of autosomal recessive congenital ichthyoses.
However, this is the most common cause.
Surprisingly, in 10% of cases of colloidon membranes,
the child will actually have healthy skin.
The colloidon membrane is often accompanied
with being born prematurely.
In this classification, we see harlequin ichthyosis.
This is caused by a mutation in the ABCA12 gene.
(11:40):
This type has a severe colloidon membrane
drooping lower eyelids.
This is known as ectropion.
Out-turned lips, this is eclabium, and contractures.
Contractures being where the tissue
between the joints has shortened,
leaving the joint in a permanently bent or abnormal position.
Lamallar ichthyosis.
This form, we see dark plate-like scaling
(12:00):
present all over the body.
This includes in the creases of the arms and the legs.
There's also the bathing suit variant of lamallar ichthyosis.
This form only affects areas that are warmer,
like the trunk and the scalp.
Non-bulbous congenital ichthyosiform erythroderma.
This form causes fine white semi-adherent scales
and erythroderma, which is the reddening of the skin.
(12:23):
Depending on the gene affected in this form,
there may or may not be palmo plantar keratoderma,
which is the thickening of the skin on the palms
of the hands and the soles of the feet.
There's also the keratinopathic ichthyoses.
As the name suggests, these are all forms of ichthyosis
that are caused by mutations affecting the keratin.
In these forms, there are symptoms present at birth.
(12:43):
The skin on birth will be moist, red, and tender.
After a few weeks, thick white to brown scaling
will appear on the extensor joints.
These are joints that extend your limbs.
Think of (straightening) the knees, that's an extension.
In these forms, fluid-filled blisters can occur.
These can also become infected.
A form of keratinopathic ichthyosis
is epidermolytic ichthyosis,
(13:05):
which is caused by a mutation
in either the KRT1 or KRT10 genes.
This will depend on the case.
This form can cause annular polycyclic erythematous plaques.
This essentially means it can cause
multiple red circular lesions on the skin.
With another form called ichthyosis Curth-Macklin,
which is also caused by a mutation in the KRT1 gene,
(13:27):
this can cause a porcupine or spiky appearance
in the skin due to the varied thickness.
And when it comes to keratinopathic ichthyoses,
the KRT1 mutations have the palmoplantar keratoderma,
so the thickening of the skin on both the palms
of the hands and the soles of the feet.
With keratinopathic ichthyoses,
there can be a failure to grow.
There are also forms of congenital ichthyoses
(13:49):
that are caused by syndromes.
These include conditions like Refsum's disease,
Netherton syndrome, and Sjogren-Larsson.
So the skin symptoms come along with several other symptoms.
What causes the symptoms to occur in ichthyosis?
When it comes to ichthyosis,
there are changes in how the skin grows and sheds.
Depending on the specific version of ichthyosis
(14:09):
and the genes involved will depend on how the condition
actually affects the growth and shedding of the skin.
So it can affect the skin cycle
in essentially three different ways.
It can cause your skin cells to grow faster
than they are shed.
These skin cells can grow at a normal rate,
however, they can shed at a slower rate,
or the skin cells can shed at a faster rate
than they can grow.
All of these are not desirable and can cause issues.
(14:31):
Can you develop ichthyosis later in life?
Yes.
However, this is known as acquired ichthyosis
rather than congenital ichthyosis.
This is because you acquired it later in life.
When it comes to acquired ichthyosis,
this is a sign of something else going on in the body,
not its own unique condition like the hereditary forms.
The acquired form can be caused by a variety of conditions.
(14:54):
So this condition can be found to be caused by cancers
like Hodgkin lymphoma, which we discussed in episode 48,
autoimmune illnesses like lupus,
which we covered in episode 35,
metabolic diseases like chronic kidney disease
and chronic liver disease,
can also be from medications like hydroxyurea,
kava, nicotinic acid, and some targeted cancer therapies,
(15:15):
or even from infections like leprosy and AIDS.
Acquired ichthyosis resembles ichthyosis vulgaris,
but due to its development in adulthood,
it is not the same condition.
How you treat it will depend on how you develop it.
So if it's from a medication, stopping the medication
and treating the dryness until it goes away.
If it's from an underlying condition,
treating the underlying condition.
(15:36):
How do we diagnose congenital ichthyosis?
When it comes to ichthyosis,
the diagnosis normally begins with a physical examination
along with discussing family history and medical history
of you or your child experiencing these symptoms.
After this, a few tests may be ordered
to get a clearer picture of what is going on.
These include genetic testing.
As congenital ichthyosis is a genetic condition,
(15:57):
using either a blood test or a cheek swab
to test for known mutations that can cause these symptoms.
Skin biopsy.
A skin biopsy removes a piece of the skin to be tested.
This can show several things
depending on the form of ichthyosis.
We'll get right into the symptoms and presentation
right after this little break.
(upbeat music)
This podcast is supported by listeners like you
(16:27):
on Buy Me a Coffee.
What symptoms might you have if you had ichthyosis?
Well, the symptoms you might have
will really depend on the type of ichthyosis.
However, there are several symptoms
that can be seen across these conditions.
These include dry skin, redness of the skin,
cracking of the skin, itching.
You may also experience scales appearing on the skin.
These can be white, gray, or brown.
They can also appear in several different ways.
(16:49):
They may be small and flaky.
They may appear as large, dark plate-like scales,
or they may appear as hard, armour-like scales.
This will, of course, depend on your condition.
Other symptoms may also be present,
but this will vary based on which form of ichthyosis
you happen to have.
These include thickening of the skin.
This is on the palms of the hand
and the soles of the feet.
Tightening of the skin.
(17:10):
Having difficulty flexing some of your joints.
Experiencing blisters.
These can break open and lead to wounds.
Dry eyes and experiencing difficulty
when it comes to closing your eyelids.
Inability to sweat or perspire.
This is due to the scales, clogging the sweat glands.
Difficulty hearing.
Hair loss or fragile hair.
What should a doctor be aware of
when it comes to congenital ichthyosis?
(17:32):
There are several potential complications
a doctor should be aware of
when it comes to congenital ichthyosis.
These include skin infections.
With this condition, blisters and other wounds
can become infected.
In some cases, they may even turn septic.
This is, of course, a medical emergency.
Having decreased perspiration, sweating less,
can lead to overheating.
Overheating can lead to heat stroke,
which is, of course, dangerous as well.
(17:53):
Electrolyte imbalances and dehydration.
Due to the skin being used to keep bacteria out
and keep fluid in, when there are issues with the skin,
there can be fluid leaking out of the skin.
This can cause severe dehydration.
Certain forms of congenital ichthyosis
can affect the hearing or eyesight.
How do we treat congenital ichthyosis?
When it comes to inherited ichthyosis, there is no cure.
(18:14):
These conditions are managed through a variety of methods.
These include using non-soap cleansers for bathing.
This is due to soap being potentially drying,
so it makes the dryness worse.
Bathing in salt water.
Using a pumice stone or a form of exfoliating sponge
to help remove the scales.
Using moisturisers and moisturising creams,
(18:36):
especially those containing urea, salicylic acid,
or alpha hydroxy acids.
In more severe cases,
the use of oral retinoids may also help.
Vitamin D supplements may also be used
in severe cases of ichthyosis.
When it comes to secondary bacterial infections,
they will also use antibiotics.
What will be used in the treatment of congenital ichthyosis
(18:56):
will differ case to case.
This is due to many conditions coming under the umbrella
of congenital ichthyosis.
What may work best for one may not work well for another,
so be sure to work with your doctor
to find the treatment best for you.
Although there are not really any famous cases
of congenital ichthyosis,
there are documentaries you can check out
that show you the condition
and what it is like to experience.
(19:17):
One I recommend is "My Skin Could Kill Me."
This documentary is available on YouTube
and I have provided a link for it in the description.
It follows two families that have children
with harlequin ichthyosis.
This being the most severe form of the condition.
It shows their day-to-day life
following what they do to adapt to this condition.
Viewer discretion is advised,
as this documentary does show testing,
(19:38):
treatment, and medical imagery,
which some may find confronting
considering that this condition is severe.
If you would like to check out our foundation,
for those everywhere, there is The FIRST Foundation.
This foundation aims to improve the lives
of those experiencing ichthyosis
and related skin conditions.
They do this by providing funding for research,
up-to-date information on these conditions,
and providing support networks
for those experiencing congenital ichthyosis
(20:00):
and similar conditions.
This is the main foundation for this condition,
and through their support,
eight more genetic causes of congenital ichthyosis
and similar conditions have been found.
If you want to check out the sources,
social media links, or any other links,
you can head to anatomyofillness.com.
If you enjoyed this episode and would like to hear more,
subscribe to be notified about our latest episodes.
If you would like to join our community,
you can join us on Discord or Instagram.
(20:21):
Otherwise, stick around for the next episode.
(upbeat music)
(upbeat music)
Did you know that the skin can actually flex?
This is due to the skin having its own muscles,
(20:42):
these being the arrector pili muscles,
which are located inside of your hair follicles.
It is these muscles we see activating
when you have goosebumps,
causing your hairs to stand up straight.
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