42 Unbelievable Cases Where Doctors Faced Rare Diseases That Defied All Odds
Ever wondered what it’s like when sweat decides to put on a show and change colors? Or when someone’s skin turns so silvery blue you’d swear they just jumped out of a comic book? Yeah, welcome to the wild world of rare diseases—a place where doctors turn into detectives and reality feels stranger than fiction. From a patient sweating blue to another who’s allergic to water itself, these aren’t your everyday cases. Hold onto your hats as we dive into some of the most bizarre, mind-boggling medical tales that’ve left even seasoned doctors scratching their heads. Ready to have your curiosity tickled and your sense of wonder blown? Let’s unravel these medical marvels together! LEARN MORE.
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.
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.
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.
Actual scurvy. Poor old man didn’t know how to cook and ate nothing but biscuits…
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 👊🏾.
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.
The rarest I’ve encountered is KID Syndrome (Keratitis Ichthyosis Deafness). A 5 year old, very sweet, blind girl who literally had rough, thick, opaque skin on the surface of her eyes.
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.
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!
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