26 of the Rarest Diseases Encountered by Doctors

‘Hysterical pregnancy’
26 of the Rarest Diseases Encountered by Doctors

Unless you’re under the care of Dr. Gregory House, chances are when you go to the doctor, it’s going to be for something they’re thoroughly familiar with. Medical dramas, in search of the latter word, make it seem like every other patient that’s wheeled into an ER turns out to have a condition pulled from the least-worn pages of a medical textbook. In real life, however, you’re more likely to have a year-one, day-one sort of diagnosis.

Of course, these rare conditions aren’t made up, and they do happen. It’s just usually a once-in-a-career encounter, rather than once a week at 7 p.m./6 p.m. Central. Since walking into a hospital and asking doctors “What’s the weirdest thing you’ve ever seen here?” is generally frowned upon and highly disruptive, someone instead went to Reddit to ask them during their off-hours. 

Here then are some of the rarest and weirdest diseases Reddit doctors have ever seen, including one that’s oddly reminiscent of Gatorade commercials.

MadHerm0101 e 4y ago 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. 689 ...
riparian1211 4y ago 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. 8.7K ...
lurkhippo 4y ago 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. 18K ...
KS AZ - Mediocre_Street9040 4y ago Edited 4y ago 00 Gorham's disease aka vanishing skull syndrome. A softball size area of my patient's skull disappeared and left behind a soft spot. she ended up with a plastic plate to protect her brain. Crazy disease.
tskir 4y ago We had a patient once, a young girl, who was so sick that it broke our data analysis pipeline. When the code ingested a genome sequencing sample, it attempted to detect the chromosomal sex of the patient. It was using two metrics: the sample was considered female if it (1) lacked Y chromosome, and (2) was heterozygous on X chromosome, implying there were two copies of it. Otherwise the sample was considered male. This one sample registered as female on metric 1 (no Y chromosome) but male on metric 2 (very little heterozygocity on X chromosome), which
sinus_slicer 4y ago 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. 9.7K ...
xtranscendentx 4y ago Edited 4y ago 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. Не 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 to
uh034 4y ago Fibrodysplasia ossificans progressiva (FOP). A disease that calcifies soft tissue and turns it into bone. When | 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. 14K ...
bittertiltheend 4y ago Walking corpse syndrome - cotard delusion. 17 years in mental health and I've seen it once. The belief that some or all of you is dead. The guy was so certain he was dead he believed he was a zombie. 12K ...
urunu12345 4y ago Maybe not the rarest, but saw a 4-5 year old patient with Lesch Nyhan Syndrome on my peds rotation in med school. It's an X-linked recessive disease that a quick Google search tells me affects about 1 in every 400,000 individuals. It's due to a mutation in an enzyme involved with DNA recycling. The thing all med students remember about it is for whatever reason these patients have a tendency to self- mutilate. My specific patient had to have a procedure to have all his teeth removed because he would terribly bite his arms unless he was
sevenbeef 4y ago Dermatologist here. Some fun ones: Chromhidrosis, where sweat comes out in different colors. My patient's was blue. Argyria, a permanent discoloration from silver overdose. Aquagenic urticaria, an allergy to contact with water. 23K ...
palmaud . 4y ago . Edited 4y ago 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.
iambatmon 4y ago 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.
shatteredpatterns 4y ago 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 deadly arrhythmia that needs to be shocked before long in order for him to survive. Seriously. 3.1K ...
InsaneCowStar 4y ago Edited 4y ago When I was in nursing school I took care of a woman with Fibrodysplasia ossificans progressiva, basically your muscles slowly calcify to bone, and every injury, even small ones speed up the process. She was pretty much wheelchair bound and needed 24 hour care.
clayxa . 4y ago Actual scurvy. Poor old man didn't know how to cook after his wife died and ate nothing but biscuits... 16K ...
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
Whatisdissssss 4y ago Persistent genital arousal disorder. Having multiple orgasms a day, at any time, without any stimulation; becomes quite bothersome and uncomfortable, limits your daily activities and sleep is interrupted. Over time patients can become very hopeless. It is remarkable the dissonance between the name and the obvious joke, and the tremendous suffering these patients endure. 9.5K ...
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
Subliminalsaint 4y ago Psychiatrist here. Anti-Nmda encephalitis. As seen on the movie Brain on Fire. About 2 cases per million per year. I've actually seen 2 cases 12 months apart. 3.8K ...
escapingdarwin 4y ago Kawasaki's disease and this was 25 years ago when even less was known about it. Have to give credit to a young cardiologist for confirming it. 1.4K ...
 4y ago Edited 4y ago 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
burtsbees000 4y ago 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. 831 ...
lamoldsowhat 4y ago Not that rare but very creepy was side neglect after a stroke. The person completely forgets that there is more than one side to their body: they will brush only half their hair, do makeup or shave half their face and use only one hand. If you put an object into the hand on the neglected side, it is as if it disappears for them. And it's not paralysis-they are able to move that arm, it's just to them, that half of the body does not exist. Strokes are fascinating actually, or rather our brain is-you can
hoangtudude 4y ago Clinical lab scientist here, doing the testing. I once saw mold growing from a brain tissue - patient was immunocompromised. Не eventually died but not before pretty much every piece of tissue submitted for culture grew fungus. The type of mold growing was common environmental flora: Alternaria species. 535 ...
raftsa 4y ago 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

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