May 22, 2025 • 16 mins
Neurofibromatosis: What is it? What are the signs and symptoms? And how do we treat it? In this episode, we will explore the history of Neurofibromatosis, the different types of this condition, and how it is currently treated. Tune in to learn more!
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Resources:
Neurofibromatosis Network (US): https://www.nfnetwork.org/
Nerve Tumours UK: https://nervetumours.org.uk/
Children’s Tumour Foundation Australia: https://www.ctf.org.au/
References:
https://my.clevelandclinic.org/health/diseases/22627-cafe-au-lait-spots
https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/
https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/
https://my.clevelandclinic.org/health/diseases/neurofibromatosis
https://www.nfnetwork.org/pages-news/identical-twins-who-look-nothing-alike/?lang=en https://www.imdb.com/title/tt21097228/
*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Lately, you have been noticing small lumps and bumps appearing on your five-year-old.
(00:04):
Initially, you brushed them off as him being a clumsy little boy.
However, you have noticed that they seem to never go away.
These small lumps and bumps are ever-present.
Concerned about what these could be, you decide to take him to the doctor.
(00:30):
Hello and Welcome to Anatomy Of Illness!
Today's episode is about neurofibromatosis.
Before we get into the condition, we are going to start with the history.
So why do we know neurofibromatosis exists?
We begin in Ancient Egypt, around 1500 BC, with the Ebers Papyrus.
In this papyrus, there were three cases of tumours that grew on
(00:52):
blood vessels, nerves, ligaments and tendons.
These anatomical structures in the Ebers Papyrus were known as the metw.
One case specifically, case 873, “had multiple firm motionless tumours,
formed by many knots, all presenting with a snake-like shape.”
Moving on to the Scythian period, which is between 700 BC to 200 BC.
(01:13):
This is where a skull of a young woman was found in a cemetery of Aymyrlig.
This is in the autonomous Republic of Tuva, which is in southern Siberia.
This skull had evidence of facial abnormalities.
More specifically, an abnormal right nasal bone and abnormalities in the
front part of the maxilla, among several others.
(01:33):
These suggested the growth of a soft tissue tumour, which indicated neurofibromatosis.
Now we move to between 323 and 31 BC.
This is where a small statue originated from,
potentially either in Greece or Turkey, as it's from the Hellenic period.
This statue was of a muscular male, however it had skin nodules.
(01:54):
These have been speculated to be cutaneous neurofibromas.
However, this statue was lost after World War II.
Now we move to around 100 BC.
This is where we would meet the kings of Parthia.
If we look at the coins which have their portraits on them,
specifically Mithridate II, Orodes II, Phraates IV and many of the kings up to
(02:15):
Vardanes II had at least one large round nodule on their portrait.
In many of these is depicted on their left temple.
These are believed to be neurofibromas caused by neurofibromatosis type 1.
However, as these are portraits on coins,
and I currently do not have a functioning time machine on hand,
I don't think it would fit in my apartment.
We are unable to test if these were actually caused by neurofibromatosis,
(02:38):
so this is a case of speculation.
We are going to jump forward to between 1480 and 1650 AD.
This is with the mummy of an Incan little boy aged between 7 to 9 years old.
This was CT scanned, and in this they found evidence of multiple neurofibromas.
These were in several locations including the neck,
sovothoracic junction in the spine and the lumbar section of the spine.
(03:01):
There were also several cutaneous neurofibromas found
in the left breast area of the child and in the scalp.
Moving on to the 16th century with Ambroise Paré.
Paré was a famous French surgeon, known for inventing several surgical tools,
being considered one of the fathers of battlefield medicine and surgical techniques.
He was also the official surgeon to several French kings.
(03:23):
So Ambroise Paré's contributions, specifically for neurofibromatosis,
comes in the form of the book on monsters and marvels that he published.
In this book he discusses the case of a child.
“Its face was well proportioned in every way, but there were five horn-like growths on the head,
and it had a long, fleshy mass hanging down from the head along the back like a woman's hat.
(03:44):
Another double fleshy mass, like a shirt collar, was visible around its neck.”
Based on the reviews of this, if we believe that it is trustworthy,
it is suggested to be a case of mosaic neurofibromatosis type 1.
However, the images drawn by Paré are dramatized, giving the child claws or claw-like digits,
and describing it as well as labelling the child as a monster throughout the text.
(04:06):
This would have been somewhat normal at the time due to the view of how
monsters and disorders in humans were related back in the 16th century.
Now we move to the 1760s with Mark Akenside.
He was a British poet and physician.
So in 1761, he encountered a man who was around 60 years old at the St. Thomas Hospital.
(04:26):
He was there “to obtain present assistance for an uncommon disorder.
He was generally healthy and apparently of a good habit of body,
but had been accustomed during the greater part of his life to a constant succession of wens
that shot out in several places of his head, trunk, arms, and legs,
which in disposition he inherited from his father.
As often as these wens became inconvenient from their size,
(04:48):
his method was to cut them off with a razor,
at which times he constantly found that they grew upon the part by five or six suckers,
as he called them.”
So the wens in this account is another name for the tumours he was having.
I also do not recommend performing surgery on yourself.
It is not safe, you can get infection, and it's going to hurt a lot.
(05:08):
Akenside's descriptions of this man is considered to be the first report of neurofibromatosis
in English.
Now we move on to the 19th century with Jean Cruvelhier.
He would have illustrations of neurofibromatosis in his book called
“Anatomie pathologique du corps humain”.
So pathological anatomy of the human body.
Now we move on to 1849.
(05:30):
This is where we meet Robert William Smith, an Irish professor of surgery.
In this year, he would publish a book titled
A Treatise on the Pathology, Diagnosis, and Treatment of Neuromas.
This was the first ever systematic review on neurofibromatosis.
This book was not a small book.
This was done to accommodate the rather large drawings inside.
The book measured 48 centimetres by 70 centimetres,
(05:54):
which is almost 19 inches by 28 inches.
Not exactly something that would fit on my books shelf, sadly,
as that would be really cool.
This book discussed the six cases in the medical literature already,
and also the three cases the doctor Smith had encountered himself,
one of them being rather new to him.
This newer case was referred to him by a colleague by the name of Dr. Abraham Colles.
(06:16):
“Mr. Colles, although he confessed that he knew not their cause
and was equally ignorant of any mode of treatment by which they could be removed,
except by operation, informed him that they were not of a serious nature,
or likely to produce any impairment of his general health.
He merely recommended a course of tonic medicines and a strict attention to diet.”
This highlights how little was known by doctors about neurofibromatosis at the time,
(06:41):
and also showed how Dr. Smith felt about his colleague, you know, not being very knowledgeable.
Now we are going to move on to Rudolf Ludwig Karl Virchow
and his student Daniel Friedrich von Recklinghausen.
Virchow, in a treatise on the condition, would write about the case of a 47-year-old woman.
"I had the opportunity to pursue the exact details of an outstanding case of this type.
(07:04):
A 47-year-old woman bore over the entire body a large number of small and large growths,
some of which had grown slowly over the years.
Many of them were rather small, pea to cherry-sized, round and covered with smooth skin.
Others were larger, walnut-sized, and of the same soft consistency."
Virchow would also discuss how this condition would affect families,
(07:24):
claiming this condition to be hereditary.
Von Recklinghausen would bring up the skin colouring, which we now know as cafe au lait spots.
He was the first to associate this with the condition,
rather than to see it as something separate.
If you have been enjoying this episode, don't forget to share it with a friend, as it helps us grow.
What is neurofibromatosis?
Neurofibromatosis is a term that covers three medical conditions.
(07:46):
These three medical conditions normally cause the growth of benign tumours.
Where these benign tumours grow will depend on the form of neurofibromatosis.
So for those who have neurofibromatosis type 1, they have cafe au lait spots.
So light brown marks on their skin, armpit and groin freckles, bone deformities such as
scoliosis, this is where the spine curves abnormally, this was discussed in episode 9.
(08:09):
Nerve tumours, these are known as neurofibromas and eye nerve tumours.
Neurofibromatosis type 1 is the most common type.
For those with neurofibromatosis type 2, also known as NFT-related schwannomatosis,
this causes slow growing nerve tumours, numbness, which in this case is peripheral neuropathy,
hearing changes and vision changes, which is caused by cataracts in some occasions.
(08:33):
And finally schwannomatosis. This is the least common form,
which actually has several subtypes depending on the gene causing the condition.
In some cases it is asymptomatic, in others these slow growing nerve tumours known as schwannomas,
which in some cases are only found in one part of the body, cause chronic pain,
numbness and tingling in the fingers and toes.
So what causes neurofibromatosis? Well this would depend on the type of neurofibromatosis.
(08:58):
For those with neurofibromatosis type 1, it is caused by a mutation in the NF1 gene.
This produces the protein neurofibromin. This protein normally suppresses tumour production.
For those with neurofibromatosis type 2, there is a mutation in the NF2 gene.
This produces Merlin. No, not Merlin the wizard,
Merlin the protein, which also suppresses tumour production.
(09:20):
For schwannomatosis, many cases have an unknown genetic cause.
Others are caused by the SMARCB gene or the LZTR1 gene.
Like with the other forms, when a mutation occurs in these genes,
it prevents the body from being able to suppress tumour production.
This is why the tumours occur. How common is neurofibromatosis?
Well this again will depend on the form of neurofibromatosis.
(09:43):
Neurofibromatosis type 1 is the most common form occurring in 96% of cases.
It is believed to occur in around 1 in 3000 births. With neurofibromatosis type 2,
it occurs in around 3% of cases. This is about 1 in every 33,000 births.
The final 1% of cases are cases of schwannomatosis. These are inherited conditions,
(10:05):
so again, they are not contagious. You have to have the gene to have the condition.
How do we test for neurofibromatosis? When it comes to diagnosing neurofibromatosis,
the diagnostic criteria across the different forms varies.
The process of diagnosis begins with a physical exam.
This is looking for cafe au lait marks, neurofibromas, and even scoliosis.
They may also test blood pressure, hearing, and vision, as these can be affected by neurofibromatosis.
(10:30):
After an initial examination, doctors may request further testing like imaging.
This will be to see if there are any internal neurofibromas.
And genetic testing. This is to see what genetic mutations may be causing this.
If there are any known genetic mutations identified in your case.
We will get right into the symptoms and presentation right after this little break.
If you have been enjoying this episode, you should support us on BuyMeACoffee,
(11:05):
as this helps us continue the podcast.
What symptoms might you have if you had neurofibromatosis?
The symptoms you might have when it comes to neurofibromatosis include
Cafe au lait spots. These are birthmarks that look a little
bit like you've spilt a milky coffee on yourself or your kid.
If you have more than six of these, it can be considered a sign of neurofibromatosis type one.
There are different types of these cafe au lait spots.
(11:28):
So these are known as coast of Maine or coast of California.
These are to do with the borders and depending on which one depends on
if it actually is related to neurofibromatosis.
Small soft pea sized bumps on the skin. These are called cutaneous neurofibromas.
Some people may have more than one of these. In some cases, there can be larger ones.
(11:48):
This is caused by a growth on multiple nearby nerves.
This is known as a plexiform neurofibroma.
Freckles. These are not normally seen on the face,
like with most people who have freckles. They're instead seen on the groin and armpit areas.
These are small red to brown polka dots in appearance.
Benign tumors. So again, these are tumors that don't cause cancer. They're just, you know,
(12:09):
chill on there. These tumors can also cause seizures, vision loss, and hearing loss.
So although they may not be cancerous per se, they can still have side effects depending
on where they grow. Spinal curvature.
This is again, scoliosis, muscle weakness, numbness or tingling, pain and headaches.
This can again be all to do with where these neurofibromas are growing
or to do with other symptoms of the condition.
(12:30):
What should a doctor be aware of when it comes to neurofibromatosis?
There are several things a doctor should be aware of when it comes to this condition.
These include increased risks of various cancers. These include sarcomas,
which are a soft tissue cancer, and breast cancers, which we discussed back in episode 13.
Tumors. Specifically on the nerve between the brain and the eye.
This is known as an optic pathway glioma. These normally appear by the age of three
(12:53):
and can affect vision. Neurofibromatosis can also cause cardiovascular issues,
like high blood pressure. These tumors can also affect vision and hearing and can cause
chronic pain. How do we treat neurofibromatosis?
When it comes to neurofibromatosis, it is not a currently curable condition. However,
we do have a range of treatments that are used to manage the condition.
(13:13):
These include medications such as Selumetinib. This medication is used specifically for those
aged between two and 18 years old as a way to stop the growth of tumors.
This is in cases of neurofibromatosis type one, more specifically for the
plexiform neuromas that are not able to be operated on.
Other medications that may be used include chemotherapy. This is used in the case of
(13:35):
malignant tumors, so cancerous tumors, which people with neurofibromatosis have a higher
risk of cancer again. This is where we also may use radiation therapy.
This is used to manage cases of breast cancer, sarcoma, which again is a soft cancer,
gliomas, which are a form of brain cancer, and malignant peripheral nerve sheath tumors.
There are also surgical options. When it comes to surgical options, there are tumor removal.
(13:57):
This is done for easily accessible tumors that are on the skin and other parts of the body.
Surgery for bone growth abnormalities. So this may be, for example, for those who have scoliosis
due to the condition. This is used in severe situations. However, bracing may also be
recommended to help for less severe situations. Are there any famous people with neurofibromatosis?
Yes, there is the actor Adam Pearson. You may know him from the 2024 film A Different Man,
(14:22):
which is a dark comedy thriller. Pearson discovered he had neurofibromatosis type 1 at
age 5 after bumping his head on a window seal. This bump never went away, which led to his
parents getting him checked on by a doctor, which led to his and his twins' diagnosis.
If you would like to check out a foundation there is, for those in the US, the Neurofibromatosis
Network. Their goal is to find new treatments and potential cures for neurofibromatosis,
(14:45):
to raise awareness of the condition with both healthcare professionals and the general public,
and to also build supportive communities for those who are experiencing neurofibromatosis.
For those in the UK, there is Nerve Tumours UK. Their mission is to improve the lives of those
affected by neurofibromatosis. They provide information, access to medical and non-medical
support, and communities. And for those in Australia, there is the Children's Tumour
(15:09):
Foundation Australia. They invest in research that aims to find treatment options and eventually a
cure for neurofibromatosis. They create support and communities for kids and families experiencing
neurofibromatosis by hosting camps and virtual meetups. And they also educate about neurofibromatosis.
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
(15:31):
notified about our latest episodes. If you would like to join our community, you can join us on
Discord or Instagram. Otherwise, stick around for the next episode.
Did you know that neurons have different jobs? There are sensory, motor, or interneurons.
(15:57):
Sensory neurons deliver messages from the glands, muscles, and skin to the central nervous system.
These are picked up by interneurons, which send messages between the sensory and motor
neurons. The motor neurons carry messages from the central nervous system to the muscles.
Lately, you have been noticing small lumps and bumps appearing on your five-year-old.
(00:04):
Initially, you brushed them off as him being a clumsy little boy.
However, you have noticed that they seem to never go away.
These small lumps and bumps are ever-present.
Concerned about what these could be, you decide to take him to the doctor.
(00:30):
Hello and Welcome to Anatomy Of Illness!
Today's episode is about neurofibromatosis.
Before we get into the condition, we are going to start with the history.
So why do we know neurofibromatosis exists?
We begin in Ancient Egypt, around 1500 BC, with the Ebers Papyrus.
In this papyrus, there were three cases of tumours that grew on
(00:52):
blood vessels, nerves, ligaments and tendons.
These anatomical structures in the Ebers Papyrus were known as the metw.
One case specifically, case 873, “had multiple firm motionless tumours,
formed by many knots, all presenting with a snake-like shape.”
Moving on to the Scythian period, which is between 700 BC to 200 BC.
(01:13):
This is where a skull of a young woman was found in a cemetery of Aymyrlig.
This is in the autonomous Republic of Tuva, which is in southern Siberia.
This skull had evidence of facial abnormalities.
More specifically, an abnormal right nasal bone and abnormalities in the
front part of the maxilla, among several others.
(01:33):
These suggested the growth of a soft tissue tumour, which indicated neurofibromatosis.
Now we move to between 323 and 31 BC.
This is where a small statue originated from,
potentially either in Greece or Turkey, as it's from the Hellenic period.
This statue was of a muscular male, however it had skin nodules.
(01:54):
These have been speculated to be cutaneous neurofibromas.
However, this statue was lost after World War II.
Now we move to around 100 BC.
This is where we would meet the kings of Parthia.
If we look at the coins which have their portraits on them,
specifically Mithridate II, Orodes II, Phraates IV and many of the kings up to
(02:15):
Vardanes II had at least one large round nodule on their portrait.
In many of these is depicted on their left temple.
These are believed to be neurofibromas caused by neurofibromatosis type 1.
However, as these are portraits on coins,
and I currently do not have a functioning time machine on hand,
I don't think it would fit in my apartment.
We are unable to test if these were actually caused by neurofibromatosis,
(02:38):
so this is a case of speculation.
We are going to jump forward to between 1480 and 1650 AD.
This is with the mummy of an Incan little boy aged between 7 to 9 years old.
This was CT scanned, and in this they found evidence of multiple neurofibromas.
These were in several locations including the neck,
sovothoracic junction in the spine and the lumbar section of the spine.
(03:01):
There were also several cutaneous neurofibromas found
in the left breast area of the child and in the scalp.
Moving on to the 16th century with Ambroise Paré.
Paré was a famous French surgeon, known for inventing several surgical tools,
being considered one of the fathers of battlefield medicine and surgical techniques.
He was also the official surgeon to several French kings.
(03:23):
So Ambroise Paré's contributions, specifically for neurofibromatosis,
comes in the form of the book on monsters and marvels that he published.
In this book he discusses the case of a child.
“Its face was well proportioned in every way, but there were five horn-like growths on the head,
and it had a long, fleshy mass hanging down from the head along the back like a woman's hat.
(03:44):
Another double fleshy mass, like a shirt collar, was visible around its neck.”
Based on the reviews of this, if we believe that it is trustworthy,
it is suggested to be a case of mosaic neurofibromatosis type 1.
However, the images drawn by Paré are dramatized, giving the child claws or claw-like digits,
and describing it as well as labelling the child as a monster throughout the text.
(04:06):
This would have been somewhat normal at the time due to the view of how
monsters and disorders in humans were related back in the 16th century.
Now we move to the 1760s with Mark Akenside.
He was a British poet and physician.
So in 1761, he encountered a man who was around 60 years old at the St. Thomas Hospital.
(04:26):
He was there “to obtain present assistance for an uncommon disorder.
He was generally healthy and apparently of a good habit of body,
but had been accustomed during the greater part of his life to a constant succession of wens
that shot out in several places of his head, trunk, arms, and legs,
which in disposition he inherited from his father.
As often as these wens became inconvenient from their size,
(04:48):
his method was to cut them off with a razor,
at which times he constantly found that they grew upon the part by five or six suckers,
as he called them.”
So the wens in this account is another name for the tumours he was having.
I also do not recommend performing surgery on yourself.
It is not safe, you can get infection, and it's going to hurt a lot.
(05:08):
Akenside's descriptions of this man is considered to be the first report of neurofibromatosis
in English.
Now we move on to the 19th century with Jean Cruvelhier.
He would have illustrations of neurofibromatosis in his book called
“Anatomie pathologique du corps humain”.
So pathological anatomy of the human body.
Now we move on to 1849.
(05:30):
This is where we meet Robert William Smith, an Irish professor of surgery.
In this year, he would publish a book titled
A Treatise on the Pathology, Diagnosis, and Treatment of Neuromas.
This was the first ever systematic review on neurofibromatosis.
This book was not a small book.
This was done to accommodate the rather large drawings inside.
The book measured 48 centimetres by 70 centimetres,
(05:54):
which is almost 19 inches by 28 inches.
Not exactly something that would fit on my books shelf, sadly,
as that would be really cool.
This book discussed the six cases in the medical literature already,
and also the three cases the doctor Smith had encountered himself,
one of them being rather new to him.
This newer case was referred to him by a colleague by the name of Dr. Abraham Colles.
(06:16):
“Mr. Colles, although he confessed that he knew not their cause
and was equally ignorant of any mode of treatment by which they could be removed,
except by operation, informed him that they were not of a serious nature,
or likely to produce any impairment of his general health.
He merely recommended a course of tonic medicines and a strict attention to diet.”
This highlights how little was known by doctors about neurofibromatosis at the time,
(06:41):
and also showed how Dr. Smith felt about his colleague, you know, not being very knowledgeable.
Now we are going to move on to Rudolf Ludwig Karl Virchow
and his student Daniel Friedrich von Recklinghausen.
Virchow, in a treatise on the condition, would write about the case of a 47-year-old woman.
"I had the opportunity to pursue the exact details of an outstanding case of this type.
(07:04):
A 47-year-old woman bore over the entire body a large number of small and large growths,
some of which had grown slowly over the years.
Many of them were rather small, pea to cherry-sized, round and covered with smooth skin.
Others were larger, walnut-sized, and of the same soft consistency."
Virchow would also discuss how this condition would affect families,
(07:24):
claiming this condition to be hereditary.
Von Recklinghausen would bring up the skin colouring, which we now know as cafe au lait spots.
He was the first to associate this with the condition,
rather than to see it as something separate.
If you have been enjoying this episode, don't forget to share it with a friend, as it helps us grow.
What is neurofibromatosis?
Neurofibromatosis is a term that covers three medical conditions.
(07:46):
These three medical conditions normally cause the growth of benign tumours.
Where these benign tumours grow will depend on the form of neurofibromatosis.
So for those who have neurofibromatosis type 1, they have cafe au lait spots.
So light brown marks on their skin, armpit and groin freckles, bone deformities such as
scoliosis, this is where the spine curves abnormally, this was discussed in episode 9.
(08:09):
Nerve tumours, these are known as neurofibromas and eye nerve tumours.
Neurofibromatosis type 1 is the most common type.
For those with neurofibromatosis type 2, also known as NFT-related schwannomatosis,
this causes slow growing nerve tumours, numbness, which in this case is peripheral neuropathy,
hearing changes and vision changes, which is caused by cataracts in some occasions.
(08:33):
And finally schwannomatosis. This is the least common form,
which actually has several subtypes depending on the gene causing the condition.
In some cases it is asymptomatic, in others these slow growing nerve tumours known as schwannomas,
which in some cases are only found in one part of the body, cause chronic pain,
numbness and tingling in the fingers and toes.
So what causes neurofibromatosis? Well this would depend on the type of neurofibromatosis.
(08:58):
For those with neurofibromatosis type 1, it is caused by a mutation in the NF1 gene.
This produces the protein neurofibromin. This protein normally suppresses tumour production.
For those with neurofibromatosis type 2, there is a mutation in the NF2 gene.
This produces Merlin. No, not Merlin the wizard,
Merlin the protein, which also suppresses tumour production.
(09:20):
For schwannomatosis, many cases have an unknown genetic cause.
Others are caused by the SMARCB gene or the LZTR1 gene.
Like with the other forms, when a mutation occurs in these genes,
it prevents the body from being able to suppress tumour production.
This is why the tumours occur. How common is neurofibromatosis?
Well this again will depend on the form of neurofibromatosis.
(09:43):
Neurofibromatosis type 1 is the most common form occurring in 96% of cases.
It is believed to occur in around 1 in 3000 births. With neurofibromatosis type 2,
it occurs in around 3% of cases. This is about 1 in every 33,000 births.
The final 1% of cases are cases of schwannomatosis. These are inherited conditions,
(10:05):
so again, they are not contagious. You have to have the gene to have the condition.
How do we test for neurofibromatosis? When it comes to diagnosing neurofibromatosis,
the diagnostic criteria across the different forms varies.
The process of diagnosis begins with a physical exam.
This is looking for cafe au lait marks, neurofibromas, and even scoliosis.
They may also test blood pressure, hearing, and vision, as these can be affected by neurofibromatosis.
(10:30):
After an initial examination, doctors may request further testing like imaging.
This will be to see if there are any internal neurofibromas.
And genetic testing. This is to see what genetic mutations may be causing this.
If there are any known genetic mutations identified in your case.
We will get right into the symptoms and presentation right after this little break.
If you have been enjoying this episode, you should support us on BuyMeACoffee,
(11:05):
as this helps us continue the podcast.
What symptoms might you have if you had neurofibromatosis?
The symptoms you might have when it comes to neurofibromatosis include
Cafe au lait spots. These are birthmarks that look a little
bit like you've spilt a milky coffee on yourself or your kid.
If you have more than six of these, it can be considered a sign of neurofibromatosis type one.
There are different types of these cafe au lait spots.
(11:28):
So these are known as coast of Maine or coast of California.
These are to do with the borders and depending on which one depends on
if it actually is related to neurofibromatosis.
Small soft pea sized bumps on the skin. These are called cutaneous neurofibromas.
Some people may have more than one of these. In some cases, there can be larger ones.
(11:48):
This is caused by a growth on multiple nearby nerves.
This is known as a plexiform neurofibroma.
Freckles. These are not normally seen on the face,
like with most people who have freckles. They're instead seen on the groin and armpit areas.
These are small red to brown polka dots in appearance.
Benign tumors. So again, these are tumors that don't cause cancer. They're just, you know,
(12:09):
chill on there. These tumors can also cause seizures, vision loss, and hearing loss.
So although they may not be cancerous per se, they can still have side effects depending
on where they grow. Spinal curvature.
This is again, scoliosis, muscle weakness, numbness or tingling, pain and headaches.
This can again be all to do with where these neurofibromas are growing
or to do with other symptoms of the condition.
(12:30):
What should a doctor be aware of when it comes to neurofibromatosis?
There are several things a doctor should be aware of when it comes to this condition.
These include increased risks of various cancers. These include sarcomas,
which are a soft tissue cancer, and breast cancers, which we discussed back in episode 13.
Tumors. Specifically on the nerve between the brain and the eye.
This is known as an optic pathway glioma. These normally appear by the age of three
(12:53):
and can affect vision. Neurofibromatosis can also cause cardiovascular issues,
like high blood pressure. These tumors can also affect vision and hearing and can cause
chronic pain. How do we treat neurofibromatosis?
When it comes to neurofibromatosis, it is not a currently curable condition. However,
we do have a range of treatments that are used to manage the condition.
(13:13):
These include medications such as Selumetinib. This medication is used specifically for those
aged between two and 18 years old as a way to stop the growth of tumors.
This is in cases of neurofibromatosis type one, more specifically for the
plexiform neuromas that are not able to be operated on.
Other medications that may be used include chemotherapy. This is used in the case of
(13:35):
malignant tumors, so cancerous tumors, which people with neurofibromatosis have a higher
risk of cancer again. This is where we also may use radiation therapy.
This is used to manage cases of breast cancer, sarcoma, which again is a soft cancer,
gliomas, which are a form of brain cancer, and malignant peripheral nerve sheath tumors.
There are also surgical options. When it comes to surgical options, there are tumor removal.
(13:57):
This is done for easily accessible tumors that are on the skin and other parts of the body.
Surgery for bone growth abnormalities. So this may be, for example, for those who have scoliosis
due to the condition. This is used in severe situations. However, bracing may also be
recommended to help for less severe situations. Are there any famous people with neurofibromatosis?
Yes, there is the actor Adam Pearson. You may know him from the 2024 film A Different Man,
(14:22):
which is a dark comedy thriller. Pearson discovered he had neurofibromatosis type 1 at
age 5 after bumping his head on a window seal. This bump never went away, which led to his
parents getting him checked on by a doctor, which led to his and his twins' diagnosis.
If you would like to check out a foundation there is, for those in the US, the Neurofibromatosis
Network. Their goal is to find new treatments and potential cures for neurofibromatosis,
(14:45):
to raise awareness of the condition with both healthcare professionals and the general public,
and to also build supportive communities for those who are experiencing neurofibromatosis.
For those in the UK, there is Nerve Tumours UK. Their mission is to improve the lives of those
affected by neurofibromatosis. They provide information, access to medical and non-medical
support, and communities. And for those in Australia, there is the Children's Tumour
(15:09):
Foundation Australia. They invest in research that aims to find treatment options and eventually a
cure for neurofibromatosis. They create support and communities for kids and families experiencing
neurofibromatosis by hosting camps and virtual meetups. And they also educate about neurofibromatosis.
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
(15:31):
notified about our latest episodes. If you would like to join our community, you can join us on
Discord or Instagram. Otherwise, stick around for the next episode.
Did you know that neurons have different jobs? There are sensory, motor, or interneurons.
(15:57):
Sensory neurons deliver messages from the glands, muscles, and skin to the central nervous system.
These are picked up by interneurons, which send messages between the sensory and motor
neurons. The motor neurons carry messages from the central nervous system to the muscles.
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