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

As a former dentist the weirdest thing I saw was a mustard seed that germinated in the cavity of a fellows molar.

Malignant Hyperthermia in my 11 year old patient. I was only in my second year of anesthesiology residency. I had a salty old anesthesiologist as my attending and she calmly led the whole team through the treatment. My patient did great and her labs were all normal when I took her to the Peds ICU. I couldn’t sleep for two nights and still have haven’t gotten over it.

Fibrodysplasia ossificans progressiva (FOP). A disease that calcifies soft tissue and turns it into bone. When I was a medical student our group’s cadaver had this disease. During dissections we sometimes would get poked by spiky pieces of bone in random areas of her body. Also had a spine that resembled a small turtle shell.

My colleagues had a patient with catecholamine-induced ventricular tachycardia. AKA every time this 13 year old exercised vigorously or even got too scared, the adrenaline would induce a dangerous arrhythmia that needs to be shocked before long in order for him to survive. Seriously.

Brazilian doc here. I live in a really poor part of an already poor country. When I was in my pediatric internship there was this baby wiith hepatomegaly (big liver). In my region, the first thing that you have to think about in this cases is a disease called Kala-Azar (also known as black fever or visceral leishmaniosis). It is an endemic disease which there is a parasite transmitted by a mosquito that can infect people with compromised immune system (like people living with HIV) and kids. This parasite infects the bone marrow and simulates clinical signs of acute leukemia, like chronic fever, spontaneous bruises and bleeding. The patient develops anemia, leukopenia (low white blood cells) and low platelets. To compensate, some organs like liver and spleen take care of the bone marrow function to create new blood cells, and thus, get bigger. This disease is really common in my region, but really rare in other parts, especially non-tropical countries like the US.

Anyway, as I was saying, this baby girl, about 1 year old was admitted to investigate a hepatomegaly. But the catch was that she kept having those episodes of hypoactivity and sleepiness, and sometimes even faintings that would then get better after she was being breastfed. We then checked and saw that she was having lots of hypoglycemia episodes. Her lab was normal,and she had no other clinical signs that would remind of kala-azar, besides the hepatomegaly.

The patient had Hers Disease, a genetic disorder that makes you produce less Glycogen due to an enzyme defect. Never hear of it before meeting this patient, and I think I'll never will meet other one.

Interestingly enough, in this same time, I had a patient that was admitted with leukopenia, anemia and low platelets that was also hospitalized to rule out Kala-Azar, but he actually had Fanconi Anemia, an also really rare genetic disease. In this one, the bone marrow slowly stops producing blood cells. Besides this, the patient also has kidney, facial, bones malformation and overall physical underdevelopment.


Edit: lots of you asking how they turned out. My internship ended before I could have a better follow up, but: The little girl was managed as outpatient, with hypercaloric diet. I haven't seen her, but once you have the diagnose you can control with dietary interventionand clinical follow-up. The little boy was enlisted in the national bone marrow transplant system. Don't know what turned out of them today, but I also hope they're okay,.

Clinical lab scientist here, doing the testing. I once saw mold growing from a brain tissue - patient was immunocompromised. The type of mold growing was common environmental flora: Alternaria species.

Objective tinnitus- I could lean close to the patient’s ear and hear a ringing noise coming out.
Central Deafness- patient had an anoxic brain injury and was essentially deaf even though there was nothing wrong with his ears.

Edit- I went to bed and this blew up! Thanks for the awards! To answer some of the questions below: the objective tinnitus was following an ear surgery. The patients middle ear muscles were twitching constantly causing a ringing sound and her eardrum was acting like a speaker so we could hear it outside her head. This does not happen often and I will probably never see it again. I don't know what ended up happening with her but I think the ENT did some revision to try to fix it. This is very different than subjective tinnitus (the normal kind where the ringing is only heard in your head). That is caused by a lot of different things, but we generally don't know why it happens and don't have a lot of great ways to fix it.

The central deafness happened when oxygen deprivation damages the auditory areas of the patients brain. He could not hear anything, could not understand speech, relied on writing and lipreading to communicate. Interestingly, he also had some noticeable trouble with his speech. He had what we call "deaf speech." That is the particular type of articulation errors we see in patients who are deaf. Even though he was an adult when this happened. He also had a lot of memory problems. After several years of rehab and treatment he regained a fair amount of hearing ability.

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.

Neurologist here- we see a lot of weird stuff. Autoimmune encephalitis (“Brain on Fire”), late onset familial neuromuscular diseases, rare presentations of cancer, or paraneoplastic disorders. But one rare one sticks out for me.

We had a patient who had come in with confusion and aphasia (trouble speaking and understanding). We got more of a workup and saw small strokes all over, but in peculiar distributions, and not ones that would explain his findings. Along with it we saw micro bleeds all over superficial parts of his brain.

Turns out he has what’s called Cerebral Amyloid Angiopathy Related Inflammation. It’s an extremely rare inflammatory subtype of a stroke disorder that we still aren’t totally sure what it is. It has similar amyloid deposition you see in Alzheimer’s, deposited around vessels, which makes them weak and prone to stroke and bleeding. It causes rapidly progressive dementia.

I presented the case to our department, a large academic center, and most had never heard or seen it in their career. A couple of the stroke doctors were the only ones who knew about it and they’d never seen it. Really interesting case.

Em coup de Sabre. It’s a rare form of scleroderma that makes your skin looks like you’ve been cut by a knife down the center of your face. This poor lady’s mandible actually split in half.

Necrotizing fasciitis ie. flesh eating skin disease. Terrifying.

OBGYN here. Hmm probably conjoined twins (thoracophagus) and a couple of cases of complete androgen insensitivity syndrome.

Pathologist here. Rare diseases for most other doctors are commonplace in our field (I’ve diagnosed multiple leprosy cases and rare cancers that have only a few published cases in the literature).

Some are so rare there aren’t names, and we just describe the cancer. Intellectually challenging for us, terrible for oncologists who might not know how to treat that entity.

A Marjolin ulcer. It's a type of cancer that grows on damaged skin - mostly burned skin. I handled a patient with one on junction where her neck and back met (I was the anesthesiologist) and the patient can't lie down flat due to the pain, which made placing an endotracheal tube way more difficult.

Nurse here. Cared for a patient who was the victim of Munchausens by proxy.

I was diagnosed with a Chordoma 8 years ago. One person in a million gets it. I tell people if you have to get cancer, get one of the common ones, treatment is way better!

Hmmm. Rarest? Off the top of my head? I don’t know. I did see a woman with psoriatic arthritis type 5. It’s an autoimmune disease. It had basically disintegrated all her fingers to nubs. They had the exact shape of short, stubby sharpened pencils.

Edit: I think it’s called distal interphalangeal predominant psoriatic arthritis. And the pics I googled still don’t do it justice. She looked like she had sharpened pencil stubs for fingers, like strange little claw hands. I was an intern at the time. The woman laughed at my amazement. She was obviously comfortable with it at this point.

Edit edit: I got the precise name of the disease wrong. Somebody below pointed out to me that it’s actually a more severe form called psoriatic arthritis mutilans.

I'm a patient, and I was diagnosed with WPW after a brutal hit to my chest, while playing football. It took 2 catheter ablations, to correct the problem. Both doctors, and the hospital staff have never seen anyone diagnosed with WPW in their teens. So I was recovering around people in their 60s and 70s. It was a life changing moment, if your a cardiologist in Northeast Illinois, Mchenry, Lake and Cook County, you may have saved my life. Thank you all and Godspeed.

I am a ER nurse and was able to witness a case of advanced Fournier’s gangrene. That was the wildest thing I have ever witnessed. Keep the sick bag close when you look that one up.

Goodpasture’s syndrome, incidence rate of 1 in a million. Autoimmune condition that affects the lungs and kidneys.