Bored Panda
42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real

57
15
There’s a good chance that you haven’t heard about a rare condition called chromhidrosis. In a nutshell, the person afflicted with the disease produces colored sweat, from yellow to green, even red and black. 
It is commonly caused by a disorder in the sweat glands, and while there are treatment options, the condition may lead to emotional distress. 
If lesser-known medical conditions pique your curiosity, you may get a kick out of this list. It’s a collection of responses from a Reddit thread from years back that could very well make you want to do a few deep dives. Enjoy reading!

#1

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
My mom accompanied my sister on a visit to an allergist. The doc walked into the room, looked up from reading the chart, stopped and stared at my mother. Seemingly mesmerized he walked up to my mom and, without asking permission or saying a word, poked a finger into her cheek. "You need to get to the ER right now." they were understandably confused and thought that he was an idiot who didn't even know which one was the patient.

"NOW." He was very clear and very forceful. Scared them and, shaking, she did as he told her to do.

Turns out she had advanced colon cancer, was bleeding internally, severely anemic, her heart was failing and fluid was backing up. It caused her face to be really pasty and bloated (which he recognized) and when he pressed his finger to her cheek he saw serious pitting edema.

By the end of the day she was in the hospital, had gotten three pints of blood and pee'd out tons of dangerous fluid. Surgery within 48 hours and, though it was metastatic, she is still here 15 years later.

No matter how good a medical search program is it will NEVER replace the instinct and insight of a human being who has devoted their life to medicine!
139points

#2

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
I was working for an animal rescue on the board. We had a pregnant horse come through our care and she made it full term pregnancy, carried healthy twin foals, had a stable delivery and both foals survived. The vet we had who was also on the board delivered them.

For those who don’t know, twins for horses are extremely rare in the first place. *If* a horse gets pregnant with twins, and it’s detected early enough, one will be “pinched off” in order to save even part of the pregnancy.

If it goes undetected, usually the mare will have some serious issues. Either of the twins surviving is unheard of.

So this vet delivered twin foals from this quarter horse mare, going into it having no idea she was carrying twins, and delivered two perfectly healthy (although a little small) colts and mama had no complications.

The odds of it happening, both surviving the pregnancy, and delivery, and mom making it... astronomical. Unheard of. Those horses received letters from all over the world. A true medical anomaly.
73points

#3

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Does my newly discovered genetic mutation count? I have a mutation that causes my body to metabolize sugar almost instantly. I survive at a daily sugar level of 39-55 and they wrote peer review medical journal article about it just 2 months ago.

They testing it on diabetic mice to see if it can stop diabetes.
66points

#4

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
30-year-old African-American in active labor with about five family members around her. I am the pediatrician at bedside waiting for the baby to come out so I can examine him. He comes out and all of his poor little distal limbs are severely disfigured or missing digits. Turns out he had intrauterine amniotic banding. Pieces of the amniotic sack get wrapped around limbs and digits. This causes restriction of the blood flow and prevents development. Worst thing I have ever seen and one in 1 million chance of happening. But mom took him in her arms and loved him all night long as if nothing was different about him.
60points

#5

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Pseudocyesis or hysterical pregnancy, in a woman who was an inmate in the psych wing of a prison I rotated through. She thought she was pregnant with Jesus's triplets and had grown a massive pregnant looking belly, was producing milk, etc.
48points

#6

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
I had a gentleman who came into the emergency room with extreme fatigue and was found to have very little blood in his body. I asked him what his medical conditions were, and he told me he had polycythemia vera, which is a condition where the body makes TOO MUCH blood, the opposite.

He told me he had been diagnosed years ago but had never needed treatment. At first I thought he was mistaken about his diagnosis, and then I was worried that his bone marrow might have gone into overdrive and eventually burned out.

Eventually, we discovered that he did have polycythemia vera, but had been slowly bleeding from an obscure GI bleed, a tiny blood vessel in his small intestine that would come in and out and bleed small amounts into his stool. In essence his body was self-treating having too much blood by doing its own bloodletting, for years.

One week he bled a bit too much and got out of whack and ended up in the hospital, which is where I met him. Crazy case.
48points

#7

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Patient admitted for something unrelated starts deteriorating for no discernible reason. Has some mild generalized abdominal pain, but other than that no specific symptoms. However, he keeps worsening to the point where he's barely hemodinamically stable.

On the abdominal contrast CT, there's fluid everywhere. Organs pushed against the abdominal wall. Just one enormous grey puddle from the top of his pelvis to his diaphragm.

And then, at some point, there's a scribble of white pretty much smack dab in the middle of it all (in this context, signifying active bleeding) It was shaped like the world's smallest firework pop, and it was nowhere close any major vessel. Everyone was dumbfounded for a hot minute.

It turned out to be a spontaneous, atraumatic rupture of the cystic artery. No surgeon in the building had ever seen one.
Dude underwent embolization and made it out completely unscathed.
42points

#8

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Anti-NMDA receptor encephalitis. One in 1.5 million.

Psychotic symptoms (auditory or visual hallucinations, paranoia, delusions) due to an autoimmune disorder where your body produces antibodies against NMDA receptors in your brain.

We’ve seen 2 this past year at our hospital. The real incidence of this could be higher than one in 1.5m but might not be tested for often enough. Once someone gets labeled a “psych” patient, consideration of medical etiologies often goes out the window.
41points

#9

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
A toddler was brought in to the ER for a large hand burn. he placed his hand on a radiator and kept it there until his hand got a 2nd degree burn. the thing was he didn't cry until his mom freaked out about it. and he didn't cry when i was cleaning his blistering wound. turns out he doesn't feel pain (congenital insensitivity to pain). he was an adorable kid!
40points

#10

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
On my OB rotation during ER residency, I helped deliver a baby who had spots all over. Further blood testing revealed the baby had developed leukemia while in the mother. Didn’t know that was really possible prior to that day. Incredibly rare.
39points

#11

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Rarest disease that I’ve seen in my career thus far would have to be leprosy. It’s something that one hears about in antiquity and something I read about in books but I never expected to actually encounter it in my career.
36points

#12

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Eye doctor here:

Patient had bilateral acanthamoeba keratitis. Estimated that 0.0004% of contact lens wearers will be diagnosed with this condition in ONE EYE. My patient had it in both!

Acanthamoeba keratitis is a rare parasitic infection of your cornea.

Edit: I didn't think this would get that much attention! My patient presented after coming back from vacation complaining of a little hazy vision and his eyes feeling a bit off. His cornea looked pristine but I did note a little ocular inflammation. Turns out he had an underlying autoimmune condition (ankylosing spondylitis) known to cause ocular inflammation (uveitis) and recently stopped taking his medication so I thought this was a slam dunk case. When he came back for his follow up, we realized this was not a slam dunk, and we sent him out to a corneal specialist ASAP and now he is back to 20/20 vision in each eye! His case ended up being caused by wearing his contact lenses while swimming in a lake!

Remember dont sleep, shower, or swim with your contact lenses on and make sure to visit your eye doctor for regular check ups :).
36points

#13

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Dermatologist here. Some fun ones:

- Chromhidrosis, where sweat comes out in different colors. My patient’s was blue.

- Argyria, a permanent discoloration from having too much silver.

- Aquagenic urticaria, an allergy to contact with water.
34points

#14

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Geneticist here. I work in a pretty big hospital and we get hard to solve cases from all over the world. Some of the cases are so unique, there is literally no name yet the genetic disorder. So those would be the rarest. But for the sake of this thread, I will discuss something that is not the rarest, but is pretty rare, and one of the most interesting:

Prader Willi or Angelman Sydrome. -these are two extremely different disorders that are both caused by the same exact genetic mutation. The only difference is if the mutation occurred on the paternal chromosome or the maternal chromosome.

If it occurred on the maternal chromosome, you get Angelman Syndrome which typically results in the child being overly happy, laughing all the time with light eyes and hair color, but also severe intellectual and physical disabilities.

If the mutation occurred on the paternal chromosome you get Prader Willi Syndrome, which results in the child having excessive hunger and can literally eat him/herself, but with only mild cognitive disability. These kids may go a very long time not getting diagnosed and will become quite obese.

Bonus disorder if your still here: “Williams Syndrome” with this one the affected individual has an extremely charismatic, outgoing and fun “cocktail party” personality. They are cognitively impaired in most aspects except for speech and have very unique facial features that are described as “Elf like”


EDIT: whoa this blew up. So happy to see people interested! Given the amount of discussion this has generated, I want to clarify that terms like “cocktail party personality” and “Elfin” were once typical descriptors geneticist used but are now steering clear of due to negative perceptions. Same goes for “Happy puppet syndrome”. Thanks everyone for such an awesome discussion!
33points

#15

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
I diagnosed a patient with cancer of the parotid gland. It has an incidence of less than 1%. It went something like this..

He came to me because he was having right jaw pain. I assessed him and nothing was really out of the ordinary. I thought he was having some TMJ because he had been dealing with some stress and he did have pain at the TM joint. A week later he came back with a Bell’s palsy which is a temporary paralysis of one side of the face. This can be caused by inflammation or a viral infection. So I asked the appropriate questions and he had some upper respiratory symptoms the week before. But something was off. So I palpated his jaw again and moved more medially towards his cheek. And he said it was painful midway on his cheek. Where his parotid gland was. There was something there. Not a discernible mass, but something was off. That’s when I ordered a CT scan. And it was confirmed. I got him to a head/neck specialist along with getting him to a cancer specialist. He’s currently 2 years out and although he’s missing some of his face due to surgery, he’s doing surprisingly well. And his spirits are great.

E - wow I did not expect this much traction and interaction. I’m doing my best to respond to comments but I’ve been on mobile and it’s been tough. So if I didn’t respond to your comment I really do apologize. It wasn’t intentional and I don’t want anyone to feel slighted or bad. Thanks again for the amazing conversation and the incredibly kind words. Hope each and every one of you are in good health and spirits 🙏🏾

E2 - this has been one hell of an evening. Special thanks to all of you who’ve shared intimate and personal stories about yourselves and others. Cancer sucks and there’s nothing more important than our health so please do your best to take care of yourself. Eat well. Get rest. Make sure to be active. I’m off for tonight as I have to be up early but it’s truly been a pleasure and I’m so lucky to have made new friends. Stay well and be safe 👊🏾.
32points

#16

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
I had a patient who presented with purple/silver skin. He looked like a smurf and the silver surfer had a baby. However he was in the ER for abdominal pain and was highly offended when I asked him about his skin pigmentation. My first impression from across the room was that he was severely hypoxic and I was amazed he was walking and talking. He made comments that made it appear he was a huge conspiracy theorists so I was suspicious of colloidal silver toxicity. When I asked him about it he shouted angrily “I don’t take silver supplements anymore!” After some prying, he said he took them to self treat for a prion disease which he self diagnosed from “the grape juice test” where you spit out grape juice into a Petri dish and “a fungus grows out of it”. At this point I’m like yeah this patient is nuts. I’m pretty sure he listened to too much Alex Jones and as a result permanently dyed his skin blue, a condition called argyria.
32points

#17

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Harlequin ichthyosis. In med school there was a baby born with this. Basically their skin scales up an peels removing that very important barrier so kids born with this don’t live long. She was just a couple months old and had not yet left the hospital since birth.
31points

#18

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Rare and interesting would be Pentalogy of Cantrell which has the heart outside of the chest because the sternum has not fused.

Id seen it before with just a bit of the heart on view, but with this kid it was completely out: you could see pretty much the whole heart with the aorta and lung vessels all that was holding it, the heart just beating away. I’d done adult cardiac for a bit but this was a little different. Tiny. We covered it with a polystyrene cup, until the kid went or theatre to have it pushed back inside.

It’s meant to be 1:65,000 live births.
29points

#19

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Actual scurvy. Poor old man didn't know how to cook and ate nothing but biscuits...
27points

#20

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real
Fetus-in-fetu. 10 year old boy "pregnant" with his parasitic twin (PT).

Edit:
Case
10 y.o. boy came in with enlarging abdominal mass and intermittent generalized weakness. Imaging revealed a parasitic "fetus" which was also growing in size. History revealed mass noted 2 years ago which enlarged rapidly the last 3-4 months. Within days of admission, boy's organs begin to fail with no apparent reason. He was healthy and eating well when he was admitted. Family wanted surgical intervention to separate the parasitic twin against surgeons' advice. parasitic twin was basically starving/poisoning the boy. Surgeons opened the boy up and found that the boy and parasitic twin share a (stomach, liver, heart, blood vessels - mesodermal organs) basically too complex to operate. The boy passed away after.

This happened to a poor family in a underfunded government hospital in a corruption-infested country. The parasitic twin was donated to the hospital. It had teeth with hairy limbs with the longest curved baby nails. I can't describe it further. It is on display at the Surgeon's Hall.

Edit 2:This happened years ago before the age of smartphones.The hospital team tried to have the tissues studied for academic purposes. there was a case report about it presented in a local medical congress but as this happened in a "third world" country with limited resources, nothing came of it. I live and work in a different country now.
26points
57
15