The rarest and least studied diseases

There are diseases such as colds that are well studied, treatable, and leave almost no traces. But besides them, there are a huge number rare diseases, which it is unclear where they come from, and doctors don’t even know how to deal with them.

Their symptoms vary: from simple rashes to bone deformities. For some patients, diseases cause a lot of discomfort, while others live happily with them and do not notice any inconvenience. Below is a list of the most unusual diseases known today.

Foreign accent syndrome is an external disorder due to which a person suddenly begins to distort speech patterns, as foreigners usually do. Scientists suggest that the symptoms may be associated with a stroke or multiple sclerosis. But this theory has no confirmation.

2. Burning mouth syndrome

People who complain of regular attacks acute pain in the mucous membranes, on the tongue, lips, gums, cheeks, they can be victims of burning mouth syndrome. Experts do not yet know where the disease comes from and how to treat it.

3. Laughing Death

There is an opinion that laughter - best medicine. But it is not entirely correct. There are cases when people died from laughter. Sometimes too much severe attack fun can lead to suffocation and cardiac arrest.

4. Allergy to water

The earth is 70% water, about the same amount of liquid in human body. Therefore, people with allergies to water or aquagenic urticaria have a hard time. Dangers await them everywhere. Upon contact with water, the skin of people with this diagnosis begins to become covered with a small red rash.

5. Schizophrenia

Experts are working hard to find out the causes of the disease. You can blame genes, viruses, birth injuries and many other factors, but scientists have not yet been able to reach anything concrete. Schizophrenia remains an incurable, severe, chronic mental disorder affecting the patient’s thoughts, feelings and behavior.

6. Constant genital arousal

Patients with this diagnosis become agitated for no apparent reason and can remain in this state for months. Of course, this affects the quality of life and emotional condition sick.

7. Alice in Wonderland syndrome

This is very interesting disease, which causes patients to suddenly feel as if either themselves or the room they are in is growing or shrinking in size. Doctors are inclined to believe that factors such as traumatic brain injuries, epilepsy, and frequent migraines cause the syndrome.

8. Mobius syndrome

This neurological disease, due to which a person cannot move his facial muscles. That is, patients are unable to smile, frown, or look to the side. Doctors do not know the exact cause of the development of Mobius syndrome, but they are guilty of genetic predisposition and environmental factors.

9. Calf Bleeding Syndrome

This is a relatively new disease that was first diagnosed in Britain. Calves suffering from an unknown illness had a fever and healthy and undamaged skin began to bleed. Unfortunate people with this diagnosis usually die. To study the causes and possible methods Scientists are actively working to treat the syndrome.

10. Working hand syndrome

A strange disease manifests itself with pain, numbness, tingling, burning in the hands and forearms. At night the symptoms worsen. None of the studies confirmed the presence of muscle or nerve damage, so where the syndrome comes from is a mystery.

11. Porphyria

The disease develops against the background of excessive production of the substance porphyrin in the body. Porphyria can cause serious problems. Patients complain of vomiting, itching, cramps and many other symptoms. But the worst thing is that porphyria can lead to increased skin sensitivity to sunlight. Because ultraviolet rays can seriously damage the patient’s epidermis, the disease is nicknamed “vampire disease.”

12. Maine Jumping Frenchman Syndrome

Jerk due to sudden loud sound- normal reaction. The instinct of self-preservation is responsible for a slight fear. In people with this syndrome, the reaction is exaggerated to the point of absurdity. Frightened, they jump away to quite impressive distances, start waving their arms, repeating some phrases, and swearing. The reasons for this behavior are still unclear, but doctors believe that the syndrome may be preceded by a neuropsychiatric disorder.

13. Blue skin disease

It is very rare and is transmitted at the genetic level. Blue discoloration of the skin occurs due to abnormal high level methemoglobin in the patient's blood. Most famous case cases of this disease - the Fugate family from Kentucky. Almost all its members had blue skin, but at the same time very strong immunity.

14. Walking Dead Syndrome

Or Cotard's syndrome. Patients with this diagnosis are convinced that they are partially or completely dead. Many patients seriously believe that they are no longer alive and refuse to accept evidence to the contrary.

15. Chronic unexplained cough

Cough - normal phenomenon. With its help, the body cleanses the lungs. But if the cough continues for more than eight weeks and is not accompanied by any other symptoms, it is called unexplained.

16. Chronic orchialgia

Simply put, chronic unreasonable pain in the testicles. Without knowing the exact reasons for its appearance, doctors are unable to treat the disease.

17. Alien hand syndrome

Or Dr. Strangelove syndrome. This disease is very rare and causes a person to lose control of their hands. For example, one patient’s hand moved independently and stroked the “mistress”’s hair and face. The woman could not control this process, although it was impossible to understand from the outside.

18. Duncan's dermatosis

A dermatological disease in which the skin throughout the patient's body becomes covered with a dirty coating. Duncan's "dirty" dermatosis is often mistaken for other diseases, because before the patient is diagnosed correct diagnosis, he usually goes through a lot of unnecessary procedures and studies.

19. Electromagnetic hypersensitivity

Patients with this diagnosis feel all electromagnetic impulses in the area. Everyone reacts to them differently. Some patients experience red skin, others begin to feel burning and itching. Some complain of nausea, dizziness, and general deterioration in health. The disease is classified as controversial because scientists cannot decide whether it is mental or physiological.

20. Polydactylism

In patients with this diagnosis from birth more fingers on the limbs. Most of them consist only of skin, but there were cases when the processes were full-fledged - with bones and joints. Since the anomaly occurs sporadically, doctors find it difficult to determine its cause.

21. Hypertrichosis

The disease is also called werewolf syndrome. It is expressed by the growth of excessive amounts of hair on the body. Treating the disease is not easy. Many experts recommend that patients turn to laser hair removal.

22. Cronchitis-Canada syndrome

It manifests itself in different ways: loss of appetite, formation of polyps in the intestines, hair loss, brittle nails. Most often, Cronchitis-Canada syndrome is diagnosed in people over 50 years of age. The reasons for its appearance are still not studied.

23. Haley-Hailey disease

Rare genetic disease, manifested by blisters and erosions in the armpits, neck, skin folds, and genitals.

24. Perry-Romberg syndrome

The main symptom of the syndrome is thinning of facial tissue on one side. Deformations are accompanied by cramps and severe pain.

25. Cicero

It develops from childhood and consists of a person’s desire to eat inedible things: soap, dirt, ice, earth, plastic, rubber and others. The stronger the disease develops, the greater the danger it poses - the likelihood of poisoning increases.

Health is the most important thing that we must protect as best we can. Modern medicine has learned to cure many deadly diseases or is on the verge of doing so.

Attention, some photographs in the material may make you feel unpleasant.

Most victims reported certain “fibers” or worms that had penetrated deep into the epidermis. These "threads" can be seen under a microscope. Many scientists believe that Morgellon is caused by an unknown mutation of a fungus that can survive even at absolute zero.

The version about the psychogenic nature of the disease is also still popular. In 2012, a study was published showing that no known to science pathogens was not found in patients, and widespread media coverage of Morgellons disease provoked a sharp surge in the disease.

By 2017, about 20 thousand complaints with similar symptoms were registered. Geography of the disease: USA (all 50 states), less common in the Netherlands, Australia, UK

Temporary blindness

Since then, Natalie has had to plan her life in such a way as to have time to get everything done during the “sighted” period. “My 18th birthday fell on a blind day, but on my 21st birthday I saw everything and my friends threw me a huge party!”

Paraneoplastic pemphigus

The immune system begins to attack the keratinocytes that make up the bulk of the epidermis, causing voids to form and fill with fluid. In these places, wet blisters form, through which external infections easily penetrate.

The disease is quite rare: from 1993 to 2003, 163 cases were recorded in Western countries. About 90% of patients with paraneoplastic pemphigus died within a year due to sepsis or disease-related pulmonary failure.

Allergy to water

A water allergy affects approximately one in 230 million people. In 2017, scientists were aware of 32 water allergies. For example, British Rachel Warwick, who was diagnosed with aquagenic urticaria at the age of 12. The disease manifested itself after a visit to a public swimming pool. The girl admitted that it is quite possible to survive with the syndrome, but there can be no talk of a full life. All she dreams of is dancing in the rain or swimming in the lake.

Trimethylaminuria, or fishy odor syndrome

Doctors do not yet know how to “fix” FMO3, and advise fishy poor souls to exclude eggs, legumes, all varieties of cabbage, soy products from their diet, and also take daily Activated carbon and wash more often.

Analgia

Steven Peet from Washington, like his twin brother, knows firsthand about the insidiousness of this syndrome. “I was 6 years old, I was roller skating, I fell and heard my mother scream. I look and a bone is sticking out of my leg. I didn’t feel anything,” he recalled. As a child he broke left leg almost every month, until the guardianship authorities removed the children from the family, suspecting violent acts. The parents had to spend a lot of time, effort and eloquence to prove their innocence.

Due to constant injuries, Steve developed arthritis by the age of 30. The fate of his brother was much more tragic. Doctors promised that in a couple of years he would be confined to a wheelchair. After this, the young man committed suicide.

Kuru disease

Kuru disease is found only among the Fore tribes of Papua New Guinea. For a long time the tribe practiced a frightening funeral custom - women and children ritually ate the brain of the deceased.

As I found out in the 50s of the 20th century American doctor Carlton Gaidushek, the disease is caused by prions - harmful protein structures found in brain tissue. Once the Fore were weaned off ritual cannibalism, the Kuru disease almost disappeared.

Argyrosis

A similar deviation was observed in our compatriot from Kazan. Valery V.'s appearance suddenly changed after harmless treatment runny nose with drops containing silver. His skin took on a silver-blue hue and his hair became blond.

Allergy to electricity

In some regions (Africa, Australia, South America) we haven’t even heard of such a problem, but, for example, in Sweden, electromagnetic allergies are officially recognized: 2.5% of the population suffers from it.

Sometimes the syndrome acquires such sharp forms that patients are forced to flee into the wilderness. In the state of West Virginia, USA, there is an Internet-free “reservation”. On its territory, Wi-Fi is prohibited at the legislative level due to the giant radio telescope located nearby. Any signals may interfere with its operation. About 200 people with hypersensitivity to electricity came to the district for permanent residence.

Fatal familial insomnia

At the end of the 90s, scientists managed to find out the nature of the disease: due to a mutation in the 20th chromosome, aspargine changes to aspartic acid, as a result of which the protein molecule is transformed into a prion. By chain reaction The prion converts other protein molecules into similar ones. Plaques accumulate in the part of the brain responsible for sleep, which cause chronic insomnia, exhaustion and death.

There are 4 phases of the disease: during the first, a person becomes obsessed with paranoid ideas; by the fourth, he stops responding to external stimuli. The disease lasts from 7 to 36 months; There is no treatment, even the strongest sleeping pills do not help. In total, 40 families are known in which this disease is inherited.

Progressive fibrodysplasia

Bone with progressive fibrodysplasia, it grows uncontrollably at the expense of neighboring muscle tissues. Launches pathological process most often an injury, even a minor one. Moreover surgery- not a solution. If you cut out the ossified area, this will provoke a new focus of bone growth.

Fibrodysplasia is a genetic disease that is inherited and until recently had no cure at all. In 2006, a group of researchers at the University of Pennsylvania discovered the gene responsible for this mutation. Since then, work has begun on gene blockers in the ACVR1/ALK2 gene.

Childhood progeria

Children in an old man's body

Children with Hutchinson's typically die by age 10–13. Long-livers live up to 27 years. Science knows of only one case in which a patient with this syndrome crossed this threshold: in 1986, a 45-year-old Japanese man with progeria died of acute heart failure.

The rarest disease in the world is Fields disease

In 1998, 4-year-old girls were seen by a doctor who, even after careful research, could not determine their diagnosis. The sisters slowly lost the ability to control their bodies, but what caused the muscle degradation that inexorably engulfed the entire body is unknown.

At the age of 9, Catherine and Kirsty moved to wheelchairs, and at 14 they simultaneously lost their speech. In 2012, they were given speech devices similar to the one used by Stephen Hawking. “Now we can be distinguished by our accent. I chose Australian, and my sister chose American. The electronic voice allows us to even argue with each other,” joked Katrin.

Most diseases entail severe consequences for health, and some of them should rather be called developmental features - apart from inconvenience and strange appearance they don't carry anything. The editors of the site suggest reading more about one of these features - increased hairiness.
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There are a huge number of different diseases in the world. But sometimes it’s an ordinary runny nose that goes away in a couple of days, sometimes it’s an illness that requires surgery. In our review, 10 diseases that not only slowly kill, but also terribly disfigure a person.

1. Necrosis of the jaw

Fortunately, this disease disappeared a long time ago. In the 1800s, workers in match factories were exposed to huge amounts of white phosphorus, a toxic substance that eventually led to terrible jaw pain. Eventually the entire jaw cavity would fill with pus and simply rot. At the same time, the jaw spread a miasma of decay and even glowed in the dark from an excess of phosphorus. If it wasn't removed surgically, then phosphorus spread further throughout all organs of the body, leading to death.

2. Proteus syndrome

Proteus syndrome is one of the rarest diseases in the world. There are only about 200 cases reported worldwide. Oh this congenital disease which causes excessive growth various parts bodies. Asymmetrical growth of bones and skin often affects the skull and limbs, especially the legs. There is a theory that Joseph Merrick, the so-called "Elephant Man", suffers from Proteus syndrome, although DNA tests have not proven this.

3. Acromegaly

Acromegaly occurs when the pituitary gland produces excess growth hormone. As a rule, the pituitary gland is affected before benign tumor. The development of the disease leads to the fact that victims begin to grow to completely disproportionate sizes. In addition to their enormous size, victims of acromegaly also have a prominent forehead and very sparsely set teeth. Probably the most famous person, suffering from acromegaly, was Andre the Giant, who grew to 220 centimeters and weighed more than 225 kg. If this disease is not treated in time, the body will grow to such a size that the heart cannot cope with the load, and the patient dies. Andre died of heart disease at the age of forty-six.

4. Leprosy

Leprosy is one of the most terrible diseases, which is caused by bacteria that destroy skin covering. It manifests itself slowly: first, ulcers appear on the skin, which gradually expand until the patient begins to rot. The disease usually most severely affects the face, arms, legs and genitals. Although victims of leprosy do not lose entire limbs, victims often have their fingers, toes, and nose rot and fall off, leaving a nightmarish ragged hole in the middle of their face. Lepers have been cast out of society for centuries, and even today there are "leper colonies."

5. Smallpox

Another ancient disease is smallpox. It is even found on Egyptian mummies. It is believed that she was defeated in 1979. Two weeks after contracting the disease, the body becomes covered in a painful, bloody rash and pimples. After a few days, if the person survives, the pimples dry out, leaving behind terrible scars. George Washington and Abraham Lincoln suffered from smallpox, as well as Joseph Stalin, who was especially embarrassed by smallpox on his face and ordered his photographs to be retouched.

6. Epidermodysplasia verruciformis

A very rare skin disease, epidermodysplasia verruciformis, is characterized by a person’s susceptibility to the papilloma virus, which causes rapid growth of scattered warts throughout the body. The world first heard about terrible disease in 2007, when Dede Kosvar was diagnosed with the disease. Since then, the patient has undergone several operations, during which several kilograms of warts and papillomas were removed from him. Unfortunately, the disease progresses very quickly and Dede will require at least two surgeries a year to maintain a relatively normal appearance.

7. Porphyria

Porphyria disease is an inherited genetic disorder that results in the accumulation of porphyrins ( organic compounds who have various functions in the body, including producing red blood cells). Porphyria primarily attacks the liver and can lead to all sorts of problems with mental health. Those suffering from this skin disease should avoid exposure sun rays which lead to tumors and blisters on the skin. It is believed that the appearance of people with porphyria gave rise to legends about vampires and werewolves.

8. Cutaneous leishmaniasis

9. Elephant disease

10. Necrotizing fasciitis

Minor cuts and abrasions are a part of everyone's life, and they usually cause minimal inconvenience. But if flesh-eating bacteria gets into the wound, even a small cut can become life-threatening in a matter of hours. Bacteria actually "eat" the flesh, they release toxins that destroy soft fabrics. The only way to treat the infection is with massive amounts of antibiotics, but even then, all of the affected flesh must be cut out to stop the fasciitis from spreading. Surgeries also often involve amputation of limbs and other obvious mutilations. But even if there is medical care, necrotizing fasciitis is fatal in 30-40% of all cases.

While scientists are looking for cures for terrible diseases, ordinary people can only get their fill.

THIS IS A REPOST! Original taken from eka_tyryshkina in Mistakes of nature: people with rare diseases.

I got sick here the other day, as always, as we just need to go to visit, I’m sick! Perhaps my illness is reacting to the plannedness of the event, or perhaps to something else, but it’s good that it is not reacting to work. In general, my illness is not simple)
And now, sick at home at a late hour, having already done all my work, re-read and scrolled through all the interesting sites, I suddenly, unexpectedly, decided to find out about the rarest diseases on the planet and you know, there are so many interesting and shocking things!!!

Hemolacria

(“bloody tears”) occurs in one person in a million. Blood, instead of tear fluid, begins to flow from the eyes suddenly, and this can last about an hour. During the day, the patient sheds bloody tears from 3 to 20 times.
The exact cause of this disease is not fully understood, and therefore cannot be treated. Medical experts are still putting forward versions that hemolacria is one of the blood diseases or tumors.

In the photo - 15 year old Calvino Inman(Tennessee, USA)

Vampire Syndrome

With a diagnosis "vampire syndrome" (ectodermal dysplasia) there are only 7 thousand people in the world.
In addition to deathly pale skin and sharp fangs (with the absence of some teeth), patients have rare and Thin hair, the ability to sweat is reduced, so their body is susceptible to overheating. Symptoms appear in childhood, but the disease can be detected during pregnancy using genetic tests.

Boys are forced to wear sunglasses and use sunscreen when going outside because they cannot be exposed to direct sunlight.Wherein physical development And physical activity remains normal. The disease itself is incurable; only the symptoms can be corrected. In particular, the normal shape of teeth can be restored.
Simon's disease was diagnosed in infancy. When Mandy was pregnant for the second time, she was warned that her second child might have the same condition. However, Simon grew and developed well, so his parents took this risk.
Boys say: "Some kids make fun of our looks, but our friends think it's cool"

Pictured are Simon (13 years old) and George (11 years old) Cullen (Suffolk, UK).

Hypertrichosis

(“werewolf syndrome”) is a disease that manifests itself in excess growth hair that is not typical for a given area of ​​skin, does not correspond to gender and age. Only a little more than forty such patients are registered all over the world, so the most convenient way for them to make money is to demonstrate their ugliness... They submit applications to the Guinness Book of Records - in order become famous and earn money... The Chinese Yu Zhenhuang succeeded one hundred percent - thanks to his super-hairiness, he founded the most popular rock band in his country and became a millionaire.
It is unknown why such a mutation occurs. And no one has yet developed a treatment for hypertrichosis. Cosmetologists only know how to remove hair for a long enough period...
In the photo - 6 year old Nat Sasufan(Thailand), 2007

In the photo - 33-year-old Yu Zhenhuang (China), the hairiest man in the world

Elephantiasis

(“Proteus syndrome”, elephantiasis, elephantiasis, elephantiasis) - an increase in the size of any part of the body due to painful growth of the skin and subcutaneous tissue. In total, there are approximately 120 people in the world with this incurable disease...
And the most famous patient was the “elephant man” - Joseph Merrick. In 1980, director David Lynch even made a film about the famous Briton, which was nominated for an Oscar in eight nominations... The film was about human dignity... The makeup of John Hurt, who played Merrick, was created on the basis of what was presented at the Royal Hospital in London the preserved body of Joseph Merrick. His overlay took the actor 12 hours a day every day...
In the photo - 35-year-old Mendy Sellars(Great Britain)

Gene anomaly consisting in accelerated aging of the body , - progeria- divided into children (Hutchinson's syndrome) and adults (Werner's syndrome). For the first time about the syndrome premature aging started talking 100 years ago. And not surprisingly, such cases occur once in 4-8 million babies. Progeria (from the Greek pro - earlier, gerontos - old man) is an extremely rare genetic disease that accelerates the aging process by about 8-10 times. Simply put, a child ages 10-15 years in one year. An eight-year-old looks 80 years old - with dry, wrinkled skin, a bald head... These children usually die at 13-14 years old after several heart attacks and strokes against the background of progressive atherosclerosis, cataracts, glaucoma, total loss teeth, etc. And only a few live to 20 years or longer.
Now there are only 42 known cases of progeria in people in the world... Of these, 14 people live in the United States, 5 in Russia, the rest in Europe...
Currently, there are several organizations that provide assistance to little old people and their families. There are sites on the Internet dedicated to this particular problem, some of them are opened by doctors or social workers, others - by the families of patients.
In the photo - 24-year-old Leon Bot

38 year old tree man Dede Koswara, who lives on the island of Java, Indonesia, became famous throughout the world because of the human papillomavirus, which usually leads to the appearance of small warts, but in the case of the Indonesian, his limbs were deformed beyond recognition.
Dede's problem was that he had a rare genetic disorder that prevented him from immune system curb the growth of these warts. Therefore, the virus was able to “take over the cellular machinery of his skin cells,” giving them orders to produce a large number of horny substance from which they consisted. Dede also found low content leukocytes in the blood.

Butterfly Disease

Epidermolysis bullosa in its hyperplastic form is a genetic disease that manifests itself in the first days of life. In fact, a newborn's skin is so delicate that any touch will cause sores and blisters. The most affected areas are the protruding areas: elbows, knees, feet, hands. The resulting ulcer, from which the skin peels off in layers, does not heal for a long time, and fluid is released from it. Afterwards a large crimson scar forms.

Treatments of this disease no, only symptom relief is possible. Not long ago, the story of Lisa Kunigel, who lives with epidermolysis bullosa for almost ten years now. She needs dressings and treatment several times a day antimicrobial ointments and gels. In addition, for all 9 years Lisa has been accompanied by pain.

Mermaid Syndrome

One of rare anomalies in development is sirenomelia, popularly called “mermaid syndrome”. With this defect, newborns are born with fused legs, similar to a fish tail. They have only one functioning kidney and no genitals. Due to extensive damage internal organs such babies usually die soon. The disease occurs in one in 100,000 newborns. During all the years of observation, only three babies were able to survive. One of them was Shiloh Pepin.

Shiloh was born in 1999 and became the most famous child with mermaid syndrome. Over the 10 years that she was able to live, she made thousands of friends around the world who supported the girl and her mother. Shiloh tried to lead full life- she, like all ordinary children, went to school, attended dance classes, and went to amusement parks. The girl became famous after participating in the Oprah Winfrey show. Learning Chanel has made several films about her, and hundreds of Internet sites are dedicated to her.

The story with Shiloh - amazing story about a miracle. A child who spent his entire childhood fighting to survive. A little girl who knew how to enjoy every day, despite an incurable illness.

Munheimer's disease

Fibrodysplasia is an extremely rare disease. Official statistics is: 1 patient per 2,000,000 people. Münheimer disease occurs as a result of a gene mutation and manifests itself as external defects at birth. The baby is crooked thumbs stop, spine. Pathology leads to disability, early mortality. Where anti-inflammatory processes should take place, it begins to form bone spur Therefore, the disease is often called “disease of the second skeleton.”
Any, even minor, injury can lead to the development of glazing in the affected area. At the moment official treatment from fatal disease does not exist. Scientists have developed a drug that could theoretically fight the disease. However, the necessary clinical trials has not yet been carried out. Alas, they are very difficult to carry out - there are no more than 600 people worldwide with Munheimer's disease.

Phenomenon "Line Blashko" characterized by the presence of strange stripes throughout the body. Blaschko lines are an invisible pattern embedded in DNA. And the manifestation of the disease is the visibility of this pattern.

Usually the pattern on the back is V-shaped, and on the chest, stomach and sides it is S-shaped.

The cause of the disease may be mosaicism. In any case, the appearance of Blaschko lines has nothing to do with the nervous, muscular and lymphatic systems person.

Another abnormal disease - acanthokeratoderma, or "blue skin syndrome". People with this diagnosis may have blue, indigo, plum, or almost violet skin. In the 60s of the last century, a whole family of “blue” people lived in Kentucky. They were known as the Blue Fugates. This feature was passed down from generation to generation.

Rare diseases affect about 6% of the world's population, and this number continues to increase. All unique diseases have a different nature, but the vast majority of phenomenal ailments are associated with genetic abnormalities and infections.