There are diseases so strange and rare that many physicians have only seen them once – or never – in their lifetime. Some are genetic, others autoimmune, neurological or even unexplained. Here are 20 of the rarest diseases that can affect humans:
1. Ondine Syndrome (Congenital central hypoventilation)
The body “forgets” to breathe during sleep. It affects the autonomic nervous system and is potentially fatal without mechanical assistance.
2. Progeria (Hutchinson-Gilford Syndrome)
A genetic disease that causes accelerated aging in children. The average life expectancy is about 13 years.
3. Tree Man Syndrome (Epidermodysplasia verruciformis)
It causes excessive growth of tree bark-like warts, especially on the hands and feet.
4. Foreign hand syndrome.
A hand acts on its own, without conscious control by the individual. May occur after brain injury or surgery.
5. Congenital insensitivity to pain.
Sufferers do not feel physical pain, which can lead to serious injuries without realizing it.
6. Fibrodysplasia ossificans progressiva (FOP)
Muscles, tendons and ligaments gradually transform into bone, completely limiting movement.
7. Moebius syndrome.
A congenital facial paralysis that prevents smiling, frowning or lateral eye movement.
8. Cotard’s Syndrome (delirium of denial)
The patient believes that he/she is dead, that his/her organs have disappeared or that he/she does not exist.
9. Urbach-Wiethe.
It affects the amygdala in the brain, completely eliminating the ability to feel fear.
10. Alice in Wonderland Syndrome.
Distorts the perception of the size and shape of the body or objects. Things may seem larger, smaller or farther away than they are.
11. Trichotillomania.
Uncontrollable urge to pull out hair, eyelashes, eyebrows or other body hair.
12. Proteus syndrome.
It causes excessive growth of skin, bones and tissues. It was the disease of the “elephant man”, Joseph Merrick.
13. Hypertrichosis (werewolf syndrome)
Extreme excess of hair all over the body, including the face.
14. Pica syndrome.
Compulsive desire to eat things that are not food: dirt, paint, soap, metal, etc.
15. Anhidrotic ectodermal dysplasia.
Prevents normal sweating. Affected individuals may suffer dangerous increases in body temperature.
16. Exploding head syndrome.
When falling asleep or waking up, the individual hears very loud noises (like an explosion), without external cause.
17. Foreign accent syndrome.
After a brain injury, some people begin to speak with an involuntary foreign accent.
18. Fields disease or stone girl disease.
A rare form of FOP that can begin in infancy and turn the body into a “living statue”.
19. Kleine-Levin syndrome (Sleeping Beauty syndrome).
Episodes of extreme sleepiness: people may sleep for days or weeks at a time, waking only to eat or go to the bathroom.
20. Anti-NMDA encephalopathy.
Autoimmune disorder that can cause psychosis, seizures, memory loss and catatonic states, often mistaken for mental illness.
These rare diseases remind us of the incredible complexity of the human body and how much remains to be discovered in the field of medicine. Although many are incurable, research and awareness remain key to improving the quality of life of those who suffer from them.
