Episode 59: Incontinentia Pigmenti - And the Missing Melanin - Anatomy Of Illness

Episode Transcript
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(00:00):
A few weeks ago you welcomed your beautiful baby girl, Amelia, into the world, and each day has

(00:05):
been a new adventure filled with wonder. However, this morning as you gently changed her out of her
pyjamas, you caught sight of something unusual, strange blisters appearing on her tiny arms,
legs and stomach. You recalled your mum mentioning something similar happening to you as a child.
This led to your decision to take Amelia to the pediatrician.

(00:30):
Hello and Welcome to Anatomy Of Illness. Today's episode is about incontinentia pigmenti. Before
we get into the condition, we are going to start with the history. So why do we know incontinentia
pigmenti exists? We begin in 1906. This is where the first description of incontinentia pigmenti

(00:53):
would appear in the literature. This was by Garrod. He described an infant with peculiar skin
pigmentation. Moving on to 1926, a German dermatologist by the name of Bruno Bloch would
present a case to the Swiss Society for Dermatology. He referred to this condition as
incontinentia pigmenti. He gave it this name based on the microscopic appearance of the skin. There

(01:13):
were lesions in the skin that led to the pigment being loose in the basal layer of the epidermis.
So the name essentially means pigment incontinence. Essentially the melanin, which is one of the
pigments, in the skin was very loose. Now we move on to 1928 with Marion Salzberger, who was an
American dermatologist. He also described the condition. This is why we also hear it being

(01:33):
called Bloch-Salzberger syndrome. Now we are going to jump forward to 1964. This is with Kuster and
Olbing. They would describe the case of a woman who had mental disabilities, dental issues, and
a history of congenital skin rashes. So skin rashes from birth. They then looked at her children. She
had 11 daughters and one son. Six of her daughters had incontinentia pigmenti and dental issues. This

(01:57):
highlighted that this was a genetic condition with a dominant inheritance pattern, considering
half of the children had the condition. In 1987, Spallone would also investigate a family. In this
family, there were a total of 14 affected family members across three generations. In this family,
there were also numerous miscarriages. Several of these miscarriages were found to have been male.

(02:19):
In this family, there were also eye issues. These eye issues, according to Spallone, were caused by
vascular abnormalities in the retina and also diseases of the retinal epithelium. So the blood
vessels in the retina were abnormal and the tissue in the retina was diseased. Now we move on to 1993.
We would have a dermatological assessment published by Landy and Donnai. In this, they explained four

(02:42):
dermatological traits that appear in stages in incontinentia pigmenti. However, these four traits
could overlap. If you have been enjoying this episode and think someone else might find it
helpful, don't forget to share it with them. What is incontinentia pigmenti? Incontinentia
pigmenti is an inherited condition. It is an X chromosome linked condition that is inherited
in a dominant pattern. This condition is specifically caused by the IKBKG gene. This

(03:07):
gene used to be known as the NEMO gene. The protein that this gene creates is involved in
the regulation of multiple other genes. It helps with the control of immune responses and inflammation
through its regulation of other genes. It also plays a role in managing and preventing apoptosis
in ectodermal cells. So this is managed cell death in skin, hair, teeth, sweat glands, and a variety

(03:27):
of other tissues. Incontinentia pigmenti is considered to be a group of neurocutaneous
disorders. But what does this mean? Well, neurocutaneous disorders are disorders that have
some effect on the skin, eyes, teeth, nervous system, and/or skeletal system. This means the
condition will affect these parts of the body. They come from the ectoderm layer in the fetal
development. When it comes to this condition, you will mostly see women with the condition.

(03:50):
But why is this? So incontinentia pigmenti is an X linked disorder with a dominant inheritance
pattern. However, in most cases for males with this disorder, it is lethal in early development
due to the lack of the protein. In some cases, male children will be born with a milder form
or mosaicism, which is when they don't have the mutation in every cell. So it is less severe. This

(04:11):
is what normally comes from a new mutation, so they have not inherited it from a parent.
Milder forms may be from different mutations, so they can be passed down from parents.
How common is incontinentia pigmenti? Incontinentia pigmenti is quite rare,
with only around 1,000 cases being found in medical literature. With the change of season,
don't forget to check out merchanatomy.com to be ready for the rise or drops in temperature with

(04:33):
our cool clothes. How do we diagnose incontinentia pigmenti? This will depend on the symptoms that
are present. For example, skin biopsies may be done if rashes or skin symptoms are present to
rule out other conditions. Blood tests can also be done. This can rule out other conditions and
also can be done to perform genetic screenings, so to see if the gene is affected. Eye tests.
These can be done to see if there are visual issues and also to monitor any vision issues.

(04:56):
We'll get right into the symptoms and presentation right after this little break.
If you've been enjoying this episode, you should check us out on BuyMeACoffee.
What are the symptoms of incontinentia pigmenti? Every person with this condition will have

(05:19):
different symptoms, and at different stages of life, some symptoms will be more prevalent
than others. In the first few weeks of life, the only symptoms of the condition that may
be evident is a rash. This rash can come in four stages. Vesicular, which are these red,
blister-like lesions or rashes. Verrucal, which are wart-like lesions or rashes.
Hypopigmentation. So this is a slate gray, a blue or brown skin lesion distributed on the trunk and

(05:44):
the arms and legs. This appears as irregular, wavy, or marbled pattern lines. Hypopigmentation.
These are pale, scar-like lesions. These stages can overlap or occur in any sequence.
As a person with incontinentia pigmenti ages, the skin pigment can fade or in some cases
disappear completely. This is why the name means pigment incontinence. Everyone is different,

(06:06):
but this does happen in some people. This condition can also cause alopecia, which is hair
loss. Incontinentia pigmenti can also cause a loss of movement, which is paralysis, and also muscle
spasms. Some people may have pitted or lined fingers or toenails. This can disappear by the
time someone reaches adulthood or be very mild. What are some complications doctors need to be

(06:27):
aware of when it comes to incontinentia pigmenti? There are several complications that a doctor
should be aware of. These include cerebral atrophy. This is when there is a loss of brain
tissue. In the case of incontinentia pigmenti, these are formations of small cavities in the
white matter in the brain and a loss of neurons in the cerebellar cortex.
Stroke. In the first year of life, the risk of stroke is at its highest with incontinentia

(06:50):
pigmenti. This is due to abnormalities in the blood vessels. These strokes are normally ischemic
strokes rather than haemorrhagic, but either can occur.
Delayed motor development. Around 20% of people with incontinentia pigmenti will have some form
of delayed motor development, intellectual disability, muscle weakness, or even seizures.
This will depend on the person, so not everyone will have these, and if they do,

(07:11):
they will have it at different severities, again depending on the person. Vision issues. This can
include a variety of conditions, including strabismus, which is crossed eyes, cataracts,
or even severe vision loss. Dental problems. This can include peg-shaped teeth or missing teeth,
which is anodontia. There's a form of incontinentia pigmenti called incontinentia pigmenti acromans.

(07:32):
This form has hypopigmented skin, so there are light-colored swirls and streaks on the skin.
This form may also be linked with neurological issues. So how do we treat incontinentia pigmenti?
Currently there is no specific treatment for incontinentia pigmenti. Currently treatment
focuses on managing symptoms, so for those who have seizures, these may be managed with
anti-seizure medications. For those with visual issues, in some cases they can be managed with

(07:56):
corrective lenses, so glasses or contacts, or there may need to be surgical intervention.
Visual issues will vary from person to person. Some may have it, some may not. The way they can
be fixed or if they can be fixed will also vary from person to person. Dental issues,
such as peg teeth or missing teeth, can be managed by a dentist. Some people will end up with dental
implants to replace the teeth they did not develop. When it comes to family planning,

(08:21):
seeking help from a genetic counselor and potentially using IVF may help.
Are there any famous people with incontinentia pigmenti? There is Jenna Lyons. She is on The
Real Housewives of New York City. Due to her condition, she has experienced alopecia. Because
of this, it has led her to design a line of fake lashes that look closer to natural lashes.
There is also the journalist Lucy Edwards. She is an award-winning presenter, journalist,

(08:43):
content creator, and disability activist. She lost her vision at 17 due to incontinentia pigmenti.
In 2024, she published a book called Blind Not Broken, which is half memoir, half self-help guide,
that discusses how to navigate grief and find happiness and self-acceptance. Lucy Edwards also
has a large social media presence and YouTube that shows her day in the life, giving a perspective of

(09:06):
what it is like to be blind. Recently, on her Instagram, she showed her vision journey, giving
us an idea of what vision loss is like, and also highlighting that blindness isn't just "I see
nothing." It is a spectrum. If you want to check out her, I have linked her social media in the
episode description. If you would like to check out her foundation, for those in the US, there
is the National Foundation for Ectodermal Dysplasias. They support people and their

(09:27):
families with conditions that come under this umbrella, including those with incontinentia
pigmenti. They encourage and support research into these conditions, and provide educational
resources and events to encourage understanding and connection. Due to how rare this condition is,
there are not really many foundations for it. 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

(09:48):
and would like to hear more, subscribe to be notified about our latest episodes. If you want
to join our community, you can join us on Discord or Instagram, otherwise stick around for the next
episode. Did you know that the skin contains 11 miles of blood vessels? This is just under 18

(10:15):
kilometres. These are important for temperature regulation, bringing nutrients and oxygen to the
the skin and also helping to get rid of waste.

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Episode 59: Incontinentia Pigmenti - And the Missing Melanin

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.css-14f5ked{margin:0;word-break:break-word;display:-webkit-box;-webkit-box-orient:vertical;box-orient:vertical;-webkit-line-clamp:2;overflow:hidden;}Episode 59: Incontinentia Pigmenti - And the Missing Melanin