Hypohidrotic Ectodermal Dysplasia: A condition that could make you star in your own horror films.

in stemng •  3 months ago

Introduction


This is an actor named Michael Berryman. Affected by HED as you can see but he used his unique look to Star in horror films and even won awards off it.(License: Author-Stefan Borggraefe CC BY-SA 4.0]: Wikipedia Commons

What if I told you that vampires are real; well not literal vampires but people who look like vampires and also overheat just the way vampires do when they stay under the sun for too long. The most terrifying fact is that they have sharp teeth and look like real life vampires.


What would be your reaction if you saw someone who looked like a vampire in real life? I’m guessing you’d be literally freaked out, you may start asking questions, you may even take a photo of them and create a trend on your social media platforms, you wouldn’t want to be friends with them, you would not want your kids to be friends with them either. Well, thank goodness you’re reading this article and would or may use a different approach in the way you’ll treat Vampire-looking people when you see them; cause well you know, vampires do not exist.

These people look like this because of a genetic condition called the Hypohidrotic ectodermal dysplasia. You may be wondering why they do not only look like vampires but they also overheat like vampires; here’s why - they have reduced sweat glands or unfunctional sweat glands which causes overheating as a result of the body being incapable of releasing adequate amount of sweat to cool itself during hot periods. This is not their only characteristic resemblance of a vampire; they also have cone-shaped teeth and they have very pale skin ( for white people, in the case of black People they have very dull skin) just like vampires.

This condition can cause adverse effects on their well-being and also ruin their social life. I saw a video of two Indian brothers during the course of my study, who are affected by hypohidrotic ectodermal dysplasia (HED- the short form) in a local town/ village. The villagers made these boys lives miserable by isolating from them, calling them really hurtful names like monkeys, wizards, ghosts etc, threw stones at them and even provoked local dogs to attack these boys because of this condition; quite sad you would say but this is because they find this condition strange and are not learned enough to try to be civil about the situation.


Now,


Lets try to understand the HED condition and how it arises.


.(License: . Public Domain]: Wikipedia Commons
Hypohidrotic ectodermal dysplasia (HED) is the most popular type of ectodermal dysplasia. Out of 100 people affected by ectodermal dysplasia, 80 out of this 100 people are affected by Hypohidrotic ectodermal dysplasia with the remaining 20 affected with the other 150 types of ectodermal dysplasia; do the maths! HED is a very long-term in full and it has long alternative names too like hereditary ectodermal polydysplasia or you can call it the Christ-Siemens-Touraine syndrome; all three long and complicated as the condition itself.


HED is a rare X-linked condition that is phenotypically characterized by missing teeth, fine scanty hair, pale skin, large set-back ears, cone-like teeth (like those of the vampires) reduced sweat glands and body hairs. This condition comes about as a result of muta ation in some specific growth and pre-birth development genes; the EDA (ectodysplasin A) gene, EDAR (ectodysplasin A receptor) gene, EDARADD (EDAR associated death domain).

These three genes are very important in the proper growth and development of a fetus and any defect in them would cause genetic disorder in the child. The EDA gene is responsible for embryonic cell layers (Mesoderm and ectoderm) interaction; this interaction is of significant importance in the formation of ectoderm affiliated structures like the formation of teeth, nail, sweat-glands, hair etc.


When there’s a mutation in this gene the formation of teeth, nail, sweat glands, hair etc become faulty and disordered. I almost forgot to add that the EDA gene sends instructions around in a bid to form a protein called the ectodysplasin A; a major facilitator and component of the ectodermal structure development before birth.

The EDAR gene is responsible for the production of the protein-ectodysplasin A receptor which interacts with the protein- ectodysplasin A (produced by EDA gene) to aid in the pre-birth development of ectodermal structures. Also, the EDARADD gene produces a protein -EDAR-associated death domain protein which Interacts with the ectodyplasin A receptor to also improve the pre-birth development of the skin, teeth, hair, etc. of an individual. Just like the EDA, mutation in the EDAR and EDARADD gene


How does the HED condition appear on the physical self of affected individuals?


(License: Author Pratheeba227. CC BY-SA 3.0 unported.]: Wikipedia Commons

The individual tends to have pale or dull skin, sparse scalp and skin hair, cone-like teeth, missing teeth or even the entire teeth, may have missing fingers or toes, flattened nose, thick and inverted lips.
Just like the vampires in movies, they have wrinkled and dark skin color around the eyes (they do not suck blood). They are easily affected by eczema and other skin infection because of the nature of their skin. I saw a video of a boy whose hands couldn’t be captured on thumb-printing machines; it’s is quite sad and pitiful.


How is this condition diagnosed ?



HED can be diagnosed using the phenotypical characteristic of babies (after their infant stage); a genetic test is carried out to confirm the diagnosis of this condition in the baby. Diagnosis is also carried out to spot out individuals who are carriers of this disorder. The diagnosis of this disorder isn’t necessarily to cure or treat this condition; if an individual is diagnosed with HED it helps him take care of his health more. Basically, it’s safer to be aware of the condition and take cover when and where possible.

How we can manage HED?



The approach that is advisable to use in the management of this condition is basically targeting the specific or individual problems accompanied by HED. These problems like I’ve said in the paragraphs before are the inability to sweat as a result of insufficient or unfunctional sweat glands which could result in excessive heating up or overheating of the body (Hyperthermia), the lack of hair or sparse scalp and skin hair, absence of teeth, insufficient saliva in critical cases etc.


Provision of adequate water supply and cooling systems during hot weather would help the overheating of the individual’s body. The use of hair vitamins or special hair care products can help with the sparse and dry hair. A dermatologist would be needed to test the individual’s skin and prescribe proper lotions and drugs to use in order to curb eczema and other skin infection.


Filling in and bonding of the cone-like shaped teeth by a dentist(orthodontics) would be done where necessary to help make chewing and grinding of food a lot easier. An otolaryngologist will also be needed to remove nasal or aural concretion, utilizing suction devices.
In a nutshell, this condition is very strenuous to manage but it’s worth it for the affected individual if I would say; it’s clearly seen that it requires a lot of medical personals to modify affected individuals and it’s quite expensive to manage.

Does this condition affect the life span of an individual and is it exclusive to any race or nation?


DESCRIPTION .(License: CC0.]:Pixabay

Unlike other forms of genetic mutation like progeria, HED has a little or no effect on an individual’s lifespan after infancy. Affected individuals are usually in a lot of pain and trauma if not well-taken care of ; they can pass out when their body is overheated which puts their life at risk to an extent but doesn’t necessarily directly affect their longevity of life.

HED is not exclusive to any race or area; it can affect anyone. Although it affects anyone it’s more popular among the Caucasians than any other human group or race. HED is a very rare condition that appears in 1 out of 10,000-15000 infants and it’s mostly common in males.


Conclusion



Hypohidrotic ectodermal dysplasia (HED) is an X-linked condition that basically messes with our physical appearance and well internal body as a result of mutation of pre-birth development genes. This condition like I say can make you look and even react to heat like a vampire; you could pass out or die of hyperthermia if you’re affected and exposed to excessive heat or sunlight just like the vampires.

People with this condition shouldn’t get isolated or treated in a less humanly way because they need all the love, care, and acceptance that they can get to keep living life. We shouldn’t fret when we see people affected with HED because they are humans like us and not going to suck our blood; ignore the pale skin and cone-like teeth, it’s just an unfortunate genetic disorder in humans.

During the course of my research on this topic, I noticed that most of the affected individuals had really old parents. I have then come to a debatable conclusion that having children at a very old age could be one of the causes of this genetic disorder (I stand corrected). This wasn’t noted in any of my research sources because like I said, this is just a personal observation and hypothesis.

References


Hypohidrotic ectodermal dysplasia -Retrieved June 11, 2018
EDA, EDAR, EDARADD gene Mutation- Retrieved June 10, 2018
HED signs, symptoms and diagnosis Information - Retrieved June 12, 2018

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Wow, this is a new one o... I can hardly pronounce the disorder sef.

Hypohidrotic ectodermal dysplasia🏃

Quite nice and informative though.

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Thank you

The disease should be nicknamed 'vampire' disease. WOuld have been lovely to see statistics relating to the disease but all in all, this is an informative post.

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lol it sure would fit in the “vampire disease” description. Well, It appears in 1 out of 10000-15000 infants in the world. And it’s common among males.
Thanks for stopping by.

Jesus

Does this really exist...... It's scary
Good one ma'am

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Yeah it’s in existence lol. Don’t fret be civil about it.
Many thanks for stopping by

Hello! I find your post valuable for the wafrica community! Thanks for the great post! @wafrica is now following you! ALWAYs follow @wafrica and use the wafrica tag!

This is a fantastic post. Real life vampire looking individuals lol. Wow, i've never heard of this one. This is nice. Thanks for sharing!

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Thank you
I’m glad you learned something new today

Hello @florae

I am glad you touched on this topic today. I have known this skin issue for years and, being a Microbiologist, I knew it must be a genetic issue but haven't really taken a closer look at it.

This condition can cause adverse effects on their well-being and also ruin their social life. I saw a video of two Indian brothers during the course of my study, who are affected by hypohidrotic ectodermal dysplasia (HED- the short form) in a local town/ village. The villagers made these boys lives miserable by isolating from them, calling them really hurtful names like monkeys, wizards, ghosts etc, threw stones at them and even provoked local dogs to attack these boys because of this condition; quite sad you would say but this is because they find this condition strange and are not learned enough to try to be civil about the situation.

You talking about Indian case while such folks abound here. I know a number of them and particularly a lad from my home town who suffered similar diseases. The villagers said it is because the lad refused to take care of the village deity which, they say, it is her destiny to take care of the local god and assume leadership of the shrine as the chief priest. That it was due to her refusal that she was afflicted by the skin disease. The lady later died out of frustration and social isolation.

This article will certainly educate a lotta people from developing countries towards a more general acceptance of people suffering from such condition.

Regards

@eurogee of @euronation and @steemstem communities

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This is a very sad story. Individuals who are affected by HED in rural areas suffer the most. The thought of HED patients in rural areas is the most saddening to me. The superstitious beliefs, the harsh weather, inadequate water supply and electricity and what not ; it’ll definitely kill HED patients before their time. May her soul Rest In Peace

And yeah I hope this article helps us treat HED patients as our fellow humans and give them the care and support they need in any way we can.
Thanks for stopping by.

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Provision of adequate water supply and cooling systems during hot weather would help the overheating of the individual’s body.

@florae by this, do you mean bathing or pouring water on them

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I mean water supply should be easily accessible and yeah they obviously pour the water on their body to cool off

Thanks for stopping by

Well, thankfully there are no vampires.

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Lol yeah

This is quite informative. This is a serious condition, can it be cured or are there ways to reduce the agony associated with it?
Nice piece kudos

Hi @florae!

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This feels vampire related to me
Great write @florae

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Thank you

Heard about the Hypohidrotic Ectodermal Dysplasia condition once before now, but reading this, I got it all detailed out -- great write @florae; thanks for sharing

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Thank you