Genetic diseases of human skin. The rarest and least studied diseases

People get sick all the time. From infancy until death, we are haunted by various viruses and infections. For some, humanity has already come up with a cure, others have disappeared from the planet forever, and their samples can only be found in special medical laboratories. A classic example of such a disease is smallpox, which a person was able to completely overcome. In this article you will learn about some the rarest diseases in the world, which they could not even think about.

The rarest diseases are those that inevitably lead to death. People, trying to protect themselves from them, invent more and more new drugs, spending huge sums on funding research laboratories. But it is impossible to do otherwise: if you do not look for ways to heal, then very soon the population of humanity will sharply decrease due to the emergence of epidemics. Historical proof of this comes from the Middle Ages, when many thousands of people died due to the rapid spread of infections.

But there are diseases that are so rare that many do not even suspect their existence. They manifest themselves in different ways. Some of them do not lead to fatal outcome, which gives hope for a successful outcome in the fight against them. Others are very dangerous and require detailed research, which is difficult due to the insignificant number of cases of their occurrence.

The rarest diseases in the world. Kuru disease

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In the first quarter of the 20th century, researchers discovered a primitive tribe in the forests of New Guinea, which until that time had successfully hidden from the advancing civilization. It was called fore. Anthropologists perceived this event as a gift of fate, allowing them to study human life at the earliest stage of evolution.

The first fact that shocked scientists was that representatives of this people actively practiced cannibalism. Moreover, they had a whole ritual dedicated to this action. What is important is that the main role in it belonged to women and children. The ritual involved eating the brains of deceased relatives. It was believed that the person who passed away in this way was obliged to pass on his knowledge and skills to his descendants.

Researchers who were in the tribe soon noticed a girl who was clearly not healthy. Her whole body was shaking, and her head was jerking convulsively from side to side. Local healers explained that the child had become a victim of witchcraft and would soon die. They called this disease “kuru”, which was translated from the Aboriginal language as “trembling”.

On initial stage disease, movement coordination was impaired, a cough, runny nose appeared, heat. Later, characteristic body trembling appears. And when did it come last stage, then the person could no longer move. After a maximum of one and a half years, the patient died.

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During the autopsies of the deceased, it turned out that their brain was more like a sponge than this human organ. Due to unknown exposure, the person deteriorated over many months and eventually died. Being among the scientists studying the inhabitants of the tribe, the doctor Carlton Gaydushek expressed doubts about the fact that black witchcraft was involved. And he turned out to be right.

Most often, symptoms of the disease appeared in women and children. This prompted Haydushek to think that cannibalism is the cause of its occurrence. Aboriginal people became infected strange disease due to the fact that they ate the brains of deceased fellow tribesmen. And indeed, after it was possible to stop this action, the disease went away and no longer manifested itself.

The rarest diseases in the world. Progeria

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One of the rarest diseases that most often overtake babies is progeria. Its appearance is due birth defect genome, which causes accelerated aging of the entire organism. The form of the disease diagnosed in young children is called Hutchinson-Gelford syndrome.

His characteristic manifestations can be observed in babies who celebrated their first birthday. Growth slows down and weight gain stops. At the same time, wrinkles appear rapidly on the skin, and hair falls out. After just a few months, the child begins to look like an old man.

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The first data on the disease were obtained about a century ago, since it manifests itself quite rarely: it affects one person out of 8 million. Currently, 42 people are carriers of this gene change. And it is unlikely that any of them will live to be 25 years old.

Besides external changes, such as a disproportionately large head and pointed facial features, the patient acquires a full bouquet of senile diseases, including atherosclerosis, cardiac dysfunction and cataracts.

For a long time, doctors were unable to figure out what causes progeria. And only recently it was established: the matter is a point mutation that occurs in every patient. This means that the disease cannot be inherited.

Unfortunately, the medicine that can save progeria patients and return them to normal life, not created yet. And it is unknown how long it may take to find him.

The rarest diseases in the world. Syndrome "X"

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Happening this disease was recorded only once in the entire history of mankind. The only carrier of the disease is Brooke Greenberg, a girl who does not age. Moreover, at the age of 4 her growth stopped completely, and at 20 she still looks like a small child.

Numerous examinations did not yield any results. All of Brooke's indicators are normal, she has not registered any known form gene mutation, no traces of diseases that could interfere with full development were also found. But for some reason, the girl’s body resists growing up, like most diseases.

Scientists believe that studying this phenomenon can help people overcome old age and finally get eternal life, which they have been searching for since time immemorial. Perhaps immortality pills will soon go on sale.

The rarest diseases in the world. Porphyria - a vampire disease

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Many people are frightened by stories about vampires who are afraid of the sun and go outside only after it has set. They have a specific appearance: fangs are visible from their mouths, their fingers are curved, and their eyes are red.

Modern scientists have proven that creatures like vampires really live among us. But this is not another form of life - people suffering from a rare disease called “porphyria” have similar signs.

The main symptom is the appearance of inflammation of the skin, and sometimes even burns, due to exposure to sunlight. In addition, there are disturbances in the functioning of the stomach and intestinal tract, as well as mental disorders.

To alleviate the human condition, doctors who lived during the Middle Ages gave the sick people fresh blood, naturally, not of human, but of animal origin. And they were not so far from the truth, since distinctive feature patients is low level hemoglobin. But this instilled horror in the people who witnessed this procedure. They most likely came up with the legend about terrible creatures drinking human blood.

The occurrence of the disease is due to the fact that in areas where a relatively small number of people lived, for example, in Transylvania, considered the homeland of vampires, marriages were often concluded between close relatives. Genetics have now proven that children born from such incestuous marriages were subject to various mutations. These include porphyria.

The rarest diseases in the world. Cipa disease

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A person who has something in pain dreams of getting rid of it as quickly as possible. unpleasant sensation and, ideally, never experience them again. But some representatives of the human race were “lucky” - they never experienced pain in their lives. Such people suffer from a rare form of gene mutation, which, according to scientists, is caused by the fact that their parents different groups blood.

Is a pain-free life as good as it seems?

There is a little girl in the world. She's never experienced painful sensations, so he can calmly walk across hot coals, like a real magician. Or put your hand on a hot stove and watch the skin peel off. Such people most often lack the instinct of self-preservation, and they die from accidents that are unlikely to happen to an ordinary person.

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Genetic diseases are unique in that they do not depend on a person’s lifestyle; they cannot be insured against simply by stopping eating fatty foods or starting to do exercises in the morning. They arise as a result of mutation and can be passed on from generation to generation.

A rare hereditary disease in which a person dies from the inability to sleep. Until now, it has been celebrated in only 40 families around the world. Fatal insomnia usually appears between 30 and 60 years of age (most often after 50 years of age) and lasts from 7 to 36 months. As the disease progresses, the patient suffers from increasingly severe sleep disturbances, and no sleeping pills help him. At the first stage, insomnia is accompanied by panic attacks and phobias; at the second stage, hallucinations and increased sweating. At the third stage of the disease, the person completely loses the ability to sleep and begins to look much older than his age. Then dementia develops and the patient dies, usually from exhaustion or pneumonia.

Narcolepsy-cataplexy syndrome, which is characterized by sudden attacks sleep and relaxation of the muscles of the body, also has a genetic nature and occurs due to disorders fast phase sleep. It occurs much more often than fatal familial insomnia: in 40 out of every 100 thousand people, equally in men and women. A person with narcolepsy may suddenly fall asleep for a few minutes in the middle of the day. "Sleep attacks" resemble a phase REM sleep and can happen very often: up to 100 times a day, with or without a headache preceding them. They are often triggered by inactivity, but can occur at completely inopportune times: during sexual intercourse, playing sports, driving. A person wakes up rested.

Yuner Tan syndrome (UTS) is characterized primarily by the fact that people suffering from it walk on all fours. It was discovered by Turkish biologist Yuner Tan after studying five members of the Ulas family in rural areas Turkey. Most often, people with SUT use primitive speech and have a congenital brain failure. In 2006, a film about the Ulas family was filmed documentary called "The Family Walking on All Fours." Tan describes it this way: “The genetic nature of the syndrome suggests a backward step in human evolution, most likely caused by a genetic mutation, reverse process transition from quadropedalism (walking on four limbs) to bipedalism (walking on two). In this case, the syndrome corresponds to the theory of punctuated equilibrium.

One of the rarest diseases in the world: this type of neuropathy is diagnosed in two people out of a million. The anomaly occurs due to damage to the peripheral nervous system, resulting from an overabundance of the PMP22 gene. The main sign of the development of hereditary sensory neuropathy The first type is loss of sensation in the arms and legs. A person stops experiencing pain and feeling a change in temperature, which can lead to tissue necrosis, for example, if a fracture or other injury is not recognized in time. Pain is one of the body’s reactions that signal any “problems”, so the loss pain sensitivity is fraught with too late detection dangerous diseases, be it infections or ulcers.

People suffering from this unusual condition appear much older than their age, which is why it is sometimes called “reverse Benjamin Button syndrome.” Due to hereditary genetic mutation, and sometimes as a result of the use of certain medicines in the body are violated autoimmune mechanisms, which leads to rapid loss of subcutaneous fat reserves. Most often suffers adipose tissue face, neck, upper limbs and torso, resulting in wrinkles and folds. So far, only 200 cases of progressive lipodystrophy have been confirmed, and it mainly develops in women. In treatment, doctors use insulin, facelifts and collagen injections, but this gives only a temporary effect.

Hypertrichosis is also called "werewolf syndrome" or "Abrams syndrome". It affects only one in a billion people, and only 50 cases have been documented since the Middle Ages. People suffering from hypertrichosis have an excessive amount of hair on the face, ears and shoulders. This occurs due to disruption of the connections between the epidermis and dermis during the formation of a three-month fetus. hair follicles. As a rule, signals from the developing dermis “tell” the follicles their shape. The follicles, in turn, also signal to the skin layers that there is already one follicle in this area, and this leads to hairs growing on the body at approximately the same distance from each other. In the case of hypertrichosis, these connections are disrupted, which leads to the formation of too dense hair in those areas of the body where it should not be.

If you've ever heard of goat syncope, you know roughly what congenital myotonia looks like - due to muscle spasms the person seems to freeze for a while. The cause of congenital (congenital) myotonia is a genetic deviation: due to a mutation, the functioning of the chloride channels of skeletal muscles is disrupted. Muscle turns out to be “confused”, voluntary contractions and relaxations occur, and the pathology can affect the muscles of the legs, arms, jaws and diaphragm.

A rare genetic disease in which the body begins to form new bones - ossifications - in in the wrong places: inside muscles, ligaments, tendons and other connective tissues. Any injury can lead to their formation: bruise, cut, fracture, intramuscular injection or surgery. Because of this, ossifications cannot be removed: after surgical intervention the bone can only grow stronger. Physiologically, ossifications are no different from ordinary bones and can withstand significant loads, but they are not located where they should be.

FOP occurs due to a mutation in the ACVR1/ALK2 gene, which encodes the bone morphogenetic protein receptor. It is inherited by a person from one of the parents if he is also sick. You cannot be a carrier of this disease: the patient is either sick or not. While FOP is considered an incurable disease, a second series of trials of a drug called palovarotene is currently underway, which allows blocking the gene responsible for the pathology.

This hereditary skin disease manifests itself in a person's increased sensitivity to ultraviolet rays. It occurs due to mutation of proteins responsible for correcting DNA damage that appears when exposed to ultraviolet radiation. The first symptoms usually appear in early childhood (up to 3 years): when the child is in the sun, he develops serious burns after just a few minutes of exposure sun rays. The disease is also characterized by the appearance of freckles, dry skin and uneven discoloration of the skin. According to statistics, people with xeroderma pigmentosum are more at risk of developing oncological diseases: in the absence of proper preventive measures, approximately half of children suffering from xeroderma develop one or another by the age of ten cancer. There are eight types of this disease of varying severity and symptoms. According to European and American doctors, the disease occurs in approximately four people out of a million.

Interesting name for a disease, isn't it? However, there is a scientific term for this “sore” - desquamative glossitis. Geographic language manifests itself in approximately 2.58% of people, and most often the disease has chronic properties and worsens after eating, during stress or hormonal stress. Symptoms manifest themselves in the appearance of discolored smooth spots on the tongue, reminiscent of islands, which is why the disease received such an unusual nickname, and over time, some “islands” change their shape and location, depending on which of the taste buds located on the tongue heal, and some, on the contrary, get irritated.

Geographic language is practically harmless, if you do not take into account increased sensitivity To spicy food or some discomfort it may cause. Medicine does not know the causes of this disease, but there is evidence of a genetic predisposition to its development.

On the last day of winter, International Day of Orphan Diseases is celebrated - not very common, but very serious diseases. From the outside it may seem that this problem concerns only the “chosen few,” but in the aggregate there are not so few people who have exotic ailments.

The “festival” of rare diseases has been held since 2008 to once again remind us of what is usually hidden from prying eyes. It is no coincidence that these diseases are called orphan diseases: patients and their loved ones are very often left alone with trouble.

In Russia, 230 rare diseases are included in the official list. 24 of them are considered the most dangerous - they affect almost 13 thousand people. The medications needed by these patients are included in the “24 nosologies” program, which obliges regional authorities to purchase drugs. The treatment of one patient may require up to 80 - 100 million rubles per year. There is often no such money in local budgets, and people can only rely on philanthropists. It is a little easier for the most difficult ones: drugs for the treatment of seven especially rare and most expensive diseases are purchased by the state. This program currently includes hemophilia, cystic fibrosis, pituitary nanism(dwarfism), Gaucher disease, myeloid leukemia, multiple sclerosis, and a condition in which a person requires immunosuppressive drugs after an organ transplant.

Most rare diseases are associated with genetic abnormalities. They arise in childhood and accompany a person throughout his life. However, according to the head of the capital’s Center for Orphan Diseases Natalia Pechatnikova, doctors are not always aware of them - it can take years to make a diagnosis. Sometimes the disease begins acutely. And sometimes - especially in children - it happens like this: the baby begins to get tired, grows poorly, walks with difficulty, and lags behind in development. He experiences convulsions, his heart beats intermittently, he suffocates, and at times loses consciousness. Doctors note an enlarged liver and spleen, changes in blood tests, and a family history. But this does not alarm anyone, and the child continues to be treated for unknown reasons - instead of sending him for genetic testing.

Dressings at 100 thousand per month

* The most common orphan disease in Russia is cystic fibrosis. A mutation of a gene that affects the permeability of cell walls leads to the fact that all secretions secreted by organs become viscous and thick. The respiratory and digestive organs are most affected. Sometimes doctors resort to lung transplantation, but most often patients are constantly on medications.

* “Fragile people” - this is what patients with imperfect osteogenesis- increased bone fragility. Often patients move in a wheelchair.

* Butterfly syndrome, or epidermolysis bullosa , manifests itself in skin hypersensitivity. A careless touch, a seam on clothing, or a fall may leave non-healing wound. The patient has to constantly change dressings, and the cost of special bandages that do not dry to wounds reaches up to 100 thousand rubles. per month. In the lethal form, not only the skin is affected, but also the lungs, and the person stops breathing.

Reference

* In Russia, diseases that occur in one person per 10 thousand population are considered orphan, in Europe - in one person out of 2 thousand. Every 15th person there is sick - about 30 million people. We have about 5 million of them.

By the way

To “catch” the deviation as early as possible, Russian bank umbilical cord blood stem cells Gemabank and the Genetico center launched a genetic testing service for newborns. Such an examination will allow us to identify the disease long before its clinical or biochemical manifestation and select therapy. Sometimes it is enough to adjust the baby’s diet to stop the development of the disease and avoid complications.

Ice bucket test

A couple of years ago, the Ice Bucket Challenge flash mob swept across the world, when stars, and not only, doused themselves in front of the camera cold water. People did this not “for fun”, but to draw attention to a serious orphan disease - side amyotrophic sclerosis(BASS). Enthusiasts donated money to the ALS research fund and raised more than $115 million.

ALS - rare degenerative lesion nervous system. The patient's muscles weaken and he finds himself “locked” in his own body. In this state, the unfortunate person can last no more than five years. Famous scientist Stephen Hawking- one of the few who live longer. Previously illness was detected after 40 years, but now it is increasingly developing in 20-30 year olds.

Stellar anomalies

* Ludwig van Beethoven suffered from an illness that caused pathological disorders in many organs. Accurate diagnosis still not installed.

* When visiting the museums of Florence in 1817 Stendhal experienced a shock, which he described in the book “Naples and Florence: a journey from Milan to Reggio.” Surrounded by art objects, his head began to hurt, his pulse began to pound, and he began to hallucinate. This condition was called “Stendhal syndrome”.

* Abraham Lincoln,Hans Christian Andersen,Korney Chukovsky,Charles de Gaulle I was familiar with another syndrome - Marfan. It is characterized by increased release into the blood catecholamines- natural substances, including adrenaline. A particularly powerful release occurs during stress. This allows you to withstand extreme physical and mental stress. In this case, serious problems with the heart, spine, and eyes are noted.

* French artist Henri de Toulouse-Lautrec suffered from imperfection osteogenesis- a disease of brittle bones and barely grew to 150 cm. The artist’s parents were cousins, and, as has been established, consanguineous marriages lead to the appearance of children with genetic abnormalities.

* "Grandmother of Europe" - Queen of Great Britain Victoria, reigning from 1837 to 1901, was a carrier of the hemophilia gene. Her numerous children and grandchildren spread it throughout Europe. Queen Victoria's son Leopold died at age 30 after falling and suffering a massive cerebral hemorrhage. Victoria’s great-great-grandson, son, inherited the same disease Nicholas II Tsarevich Alexei.

* John Kennedy, 35th President of the United States, suffered Addison's disease. It's rare endocrine disease, in which the adrenal glands do not produce enough of the hormone cortisol, which helps cope with stress.

*U Julia Roberts chronic immunopathological thrombocytopenic purpura- incoagulability of blood. A patient with this scourge can die from any injury.

Not like everyone else

The diseases and syndromes listed here are among the strangest in the world. For example, with a neurological disorder micropsies surrounding objects seem much smaller than they are, and you can feel like Gulliver in Lilliputian Land or Alice in Wonderland. Often unusual sensations occur in the dark, when the brain lacks information about the size of surrounding objects.

Fantomas gene

In the 60s a family was found in Kentucky (USA) Fugate with skin the color of moonlight. This feature did not spoil their lives; some lived up to 80, passing on the unusual trait by inheritance. For some, the blue looks like silver. This genetic abnormality is called acanthokeratoderma.

Werewolf syndrome

Increased hair growth is caused by mutations that lead to disruption of the formation of connections between the dermis and epidermis in a three-month fetus. The effect is obvious.

Vampire Ball

Sufferers porphyria people avoid the sun; under its rays their skin begins to burn unbearably. Pigment metabolism is disrupted, hemoglobin decomposes. The skin turns brown, thins and breaks. The nose and ears become deformed.

For lunch- clay for dinner- coal with sand

Unhappy, sick pica, and this is exactly what this condition is called, they cannot restrain themselves from chewing sand, clay, glue, paper, coal and other unappetizing things.

Fatal insomnia

A rare genetic disorder that causes the unfortunate to be unable to sleep. Exhausted patients experience hallucinations and mental confusion, and die within months. In the world today there are about 40 families with this diagnosis.

Bloody tears

At hemolacria bleeding from the eyes can start suddenly and not stop for an hour. During the day, the patient sheds bloody tears many times.

Elephant People

Proteus syndrome is an increase in the size of any part of the body due to the growth of skin and subcutaneous tissue. There are approximately 120 patients with this diagnosis in the world. The most famous was the "Elephant Man" Joseph Merrick, about which in 1980 the director David Lynch directed the Oscar-nominated film. A 37-year-old British woman suffers from the same illness Mendy Sellars. With a weight of 127 kilograms, 95 goes to her legs. Left leg the woman is 13 cm longer than the right one, the foot is severely deformed and turned 180 degrees. Mendy agreed to amputate it.

Almost every person has heard of appendicitis. However, there are some diseases in the world that affect only a few dozen or hundreds of people around the world. Usually this hereditary diseases or congenital anomalies developments that significantly complicate the life of the patient himself, as well as a rare pathology of mental activity.

Bloody tears

This disease is scientifically called hemolacria, when within a day, for a reason unknown to science, the eyes suddenly begin to “water” with blood. This phenomenon can occur from 1 to 20 times a day.

Bloody tears are observed with some types of tumors and disorders. However, sometimes hemolacria is observed absolutely against the background full health patient, therefore in such cases they speak of true, idiopathic hemolacria.

It has been noted that this disease appears spontaneously mainly in adolescence or in young people, and then disappears by itself. In women, hemolacria is observed more often, and in most cases - during menstruation, and this helps to diagnose one of the causes of hemolacria - endometriosis.

Hidden hemolacria. In 1991, 125 volunteers who had no health problems were examined. Tear fluid was taken from all of them and examined under a microscope. It turned out that blood cells in tears were found in 18% of women of childbearing age, as well as in 7% of pregnant women and 8% of men.

Blue skin

Blue or blue skin syndrome (argyria, argyrosis) is another rare pathology, which occurs mainly in those people who have overdone treatment with products containing silver, as well as those associated with the mining or processing of silver.

In this case, silver granules are deposited in the dermis, hair follicles, sweat glands, and skin capillaries. Silver particles in such people are also found in the thickness of the mucous membranes of the stomach, oral cavity, intestines, in parenchymal organs (liver, kidneys) and the conjunctiva of the eyes.

As a rule, if there is no concomitant silver intoxication, then nothing else bothers the patient except the blue color, but this shade of the skin and mucous membranes persists for the rest of his life.

More Blue colour skin damage may not be associated with exposure to silver, but simply be inherited. For example, during the 60s of the last century, a whole family of “blue people” lived in the state of Kentucky, whom rumor dubbed the “Blue Fugates.”

Butterfly syndrome

The scientific name of this disease is epidermolysis bullosa. This is rare genetic disease, associated with increased vulnerability of the mucous membranes and skin due to mechanical stress (in this way it resembles the fragility of butterfly wings from careless touching).

The main symptom of epidermolysis bullosa is blisters that appear in areas that are subject to pressure and friction.

Sometimes the disease is so severe that even solid food in the mouth or a normal handshake can cause the formation of new blisters, which, when opened, form numerous wounds where a secondary infection can occur.

“Butterfly children” are forced to endure constant pain, numerous bandages and treatment throughout their childhood. open wounds. Unfortunately, currently effective therapy this disease has not yet been developed.

Children who grow old quickly

Accelerated aging, or progeria, is another rare disease that occurs due to a small gene abnormality. As a result, the natural course of all processes occurring in the body fails, and a person begins to age at a rapid pace (on average, within 1 year for 8 or more years at once): heart failure progresses, cataracts develop, or occurs.

Children with this pathology rarely live to adulthood, usually dying at the age of 11–13 years, although there are isolated cases where the life expectancy was 26 years or more.

When muscles turn into bones

Another rare disease is fibrodysplasia ossificans progressiva (POF), or Munheimer's disease. This pathology appears due to a gene mutation that distorts the body. As a result of this, for any inflammatory process(for example, after a blow, strong compression of a muscle), foci of increased calcification begin to appear, which subsequently become the center of growth of new bone tissue.

Interestingly, in almost all cases the disease is accompanied by the presence of another congenital pathology, for example, clinodactyly thumb legs (the presence of such a finger in almost 95% of cases indicates that the child will develop fibrodysplasia ossificans).

Starting almost from birth, POF steadily progresses, manifested by calcification and subsequent ossification of muscles, tendons, fascia and ligaments. The disease is also characterized by the appearance of subcutaneous lumps measuring 1–10 cm, localized anywhere (in children, mainly in the back, forearms and neck). Due to the transformation of the soft tissues of the body into bones, POF is also called a disease of the formation of the second skeleton.

On this moment There are about 800 cases of Munheimer's disease reported worldwide. Prevention and effective treatment have not yet been developed.

Fatal familial insomnia

Only 40 families are known to have this disease. This is a hereditary disease that has varying degrees expressiveness. Occurs as a result of changes occurring in the central part of the brain with the formation of amyloid plaques and damage to the thalamus, which provides communication between the body and the cortex of both hemispheres.

Familial insomnia is accompanied by changes in other organs and systems of the body: the production of tear fluid and pulse rate decrease, a rash may appear and develop.

As a rule, the disease occurs in several stages:

• Stage 1. Insomnia gradually progresses, lasts about 4 months, and is accompanied by the appearance of panic attacks and fears.
• Stage 2. Lasts 5 months, characterized by anxiety, sweating, and hallucinations.
• Stage 3. For 3 months there is complete insomnia, and there is incontinence in actions.
• Stage 4. For 6 months - complete insomnia and dementia. A person may fall into a coma or die from exhaustion, as well as congestive pneumonia.

An analysis of the brains of those who died due to familial insomnia showed that this disease is caused by special proteins that can reproduce independently - prions.

Vampire diseases

In fact these are 2 rare ones genetic diseases: ectodermal dysplasia and erythropoietic porphyria. Both diseases are characterized by the fact that patients do not tolerate sunlight well, so their activity increases in the dark.

Ectodermal dysplasia. This is dead pale skin, lack of front teeth (there are only fangs), big forehead, rare hair on the head, increased dry skin. sunlight causes them advanced education blisters on the skin.

Erythropoietic porphyria. It is characterized by a violation of pigment metabolism, as a result of which porphyrins accumulate in the blood, develops, red urine, neuropsychic and gastrointestinal disorders are periodically observed, and photodermatosis occurs. The skin around the mouth gradually atrophies, forming a special type of grin, reminiscent of that of fairy-tale vampires, and teeth in ultraviolet rays acquire a pink tint. Persons suffering from this disease also prefer to night image life and hide from the sun's rays.

Jumping lumberjack syndrome

Different peoples call this psychological phenomenon differently: arctic hysteria, measuring, Lata syndrome, jumping lumberjack syndrome, etc. This is a peculiar reaction to fear, a sharp cry, sudden movement, manifested in the form of performing certain actions and complete submission.

In this article we will tell our readers about very rare diseases, which nevertheless exist and may even have influenced some moments.

Stendhal syndrome

A person suffering from this disease, finding himself in a place where there are a lot of works of art, begins to experience excitement, increased heart rate and even hallucinations. For people who have this syndrome, the Uffizi Gallery in Florence is considered the most dangerous place.

It was on the basis of the symptoms experienced by tourists visiting this gallery that this disease was described. The syndrome got its name due to the fact that it was described by Stendhal in his book “Naples and Florence: a journey from Milan to Reggio” back in 1817, but despite a large number of evidence, this syndrome was officially documented only in 1979 by the Italian psychiatrist Magherini. He studied more than a hundred identical cases of this disease. The first such diagnosis was made in 1982.

People with this disease hear various noises in their heads and even explosions. Most often, the syndrome manifests itself a couple of hours before falling asleep or almost immediately after it. Patients with this disease complain of anxiety, which is accompanied by an increased heart rate. It happens that the syndrome is accompanied by flashes of bright light in the head. Everything would be fine, but all these sensations are quite painful, and some even feel like they are having a stroke.

Some characterize the attack by the sound of string instruments, for others the sound is more like a bomb explosion. Doctors' assumptions boil down to the fact that such sleep disturbances may be associated with overexertion and stress. Most patients are women. There have been cases of symptoms of this disease in persons under 10 years of age, however average age Most patients are 58 years old.

In the medical community, this syndrome is not classified as auditory hallucinations nor to epilepsy, however, in textbooks the description of this syndrome is absent, which is due not so much to its rarity as to to a small extent knowledge.

There is no effective treatment yet, but some improvements in the condition of patients are observed with the use of clomipramine and clonazepam. In addition, patients are recommended to spend more time on fresh air, carefully monitor your daily routine and exercise. All this helps relieve stress and prevent symptoms of the disease.

Capgras' fallacy

People with this disease believe that someone close to them, most often a husband or wife, has been replaced by a clone. As a result, the patient tries in every possible way to avoid the “imposter” and does not want to sleep in the same bed with him.

Doctors believe that this disease may be the result of a brain injury or an overdose of drugs. It is also widely believed that the Capgras delusion is caused by lesions in the right hemisphere of the cerebral cortex.

A typical example of Blaschko lines

Some people may see stripes all over their body. They were called the Blaschko line, in honor of the German dermatologist Alfred Blaschko. The doctor discovered this phenomenon in 1901.

Apparently, this pattern is genetically determined and embedded in the DNA, like many inherited diseases of the skin and mucous membranes. Such stripes appear in the first months of life.

Micropsia or Alice in Wonderland syndrome

Given neurological disorder disrupts visual perception. People and animals seem smaller to the patient than they are, and the distances between objects become distorted. This disease is often called “Lilliputian vision” or “dwarf hallucinations.”

Micropsia affects not only vision, but also touch and hearing. Even his own body. Doctors believe that this disease is associated with migraines. In addition, micropsia can be caused by epilepsy or due to exposure to drugs. This distortion of perception is also observed in children 5-10 years old and appears quite often with the onset of darkness, when the brain lacks information about the size of surrounding objects.

Blue skin syndrome

Most patients never master speech, even after reaching adulthood, or only learn a few simple words. However, they understand much more than they can say or express. The name “happy puppet” comes from the characteristic walking of such patients on “stiff legs” and frequent causeless laughter.

Erythropoietic porphyria or Gunther's disease

A person with erythropoietic porphyria

A very rare disease. There are about 200 patients in the world. Conditioned genetic defect. Skin patients have very high photosensitivity. From the light, the patient's skin begins to itch very much and becomes covered with ulcers and blisters.

Ulcers and inflammation affect the ears, nose and cartilage and they are significantly deformed. The eyelids also become covered with ulcers. A person gradually turns into a living mummy. Appearance Such a person resembles images in medieval grimoires, in addition, his teeth are colored brownish-red due to porphyrin deposits in the enamel, and when exposed to ultraviolet radiation they glow purple-red.

It may very well be that it was Gunther’s disease and people suffering from it that formed ideas about creatures that are afraid of daylight and drink human blood - vampires.

Robin syndrome

Child with Robin syndrome

A child born with this syndrome is not able to eat and breathe normally because he has an underdeveloped lower jaw. In addition, his palate has clefts, and his tongue is sunken. Sometimes lower jaw may be completely absent due to which the face takes on bird-like features. The disease is treated with plastic surgery.

CIPA

Gabby Gigras is an energetic child who looks no different from her peers, but the girl is different from most people in that she suffers from a very rare disease known as CIPA.

Gabby has a congenital insensitivity to pain, which is accompanied by anhidrosis (lack of sweating). There are only 100 documented cases of this disease worldwide.

Gabby was born without the ability to sense cold, pain or heat. To many, such properties of the body may seem very useful, but in reality this is not the case. Pain and temperature sensations perform a very important protective function.

For example, if you accidentally find yourself near an open fire, you will immediately try to move away to a safe distance, getting off worse. mild case a burn, and all this will happen at a reflex level, and a person like Gabi can lose a limb before he notices that something wrong is happening.

The girl's parents noticed that something was wrong when they discovered that the 5-year-old one month old baby bit his fingers until they bled. Gabby later lost an eye and suffered serious injuries as the pain continued to scratch her wounds and sustain various household injuries. The parents are doing everything possible so that the girl can live a normal life.

Cystinosis

Cystinosis is a condition where cystine crystals appear in the body. Lily Sutcliffe suffering from this rare hereditary disease forced to take a cocktail of medications every day to avoid petrification. There are about 2,000 people in the world who have this disease.

Syndrome

Shiloh Pepin was born with fused legs. This disease is often called a syndrome. Doctors believed that the girl would live only a few days, but she lived for ten years. Shiloh Pepin died on 10/23/08. In the photo she is sitting on a table in Kennebunkropt, Maine (USA) 2007.

Shiloh Pepin was born with fused legs, a condition often called “mermaid syndrome.” Although doctors believed that the girl was destined to live only a few days, she lived for ten years. Shiloh died on October 23, 2008. She is pictured here sitting on a table in her home in Kennebunkropt, Maine in 2007.

Fatal familial insomnia

Rare genetic disorder. Patients with FSB constantly want to fall asleep, but cannot. Due to a long lack of sleep, patients go crazy and die painfully, despite the fact that the last few months before pass in twilight state consciousness.

The disease is called familial because it affects entire families. In total, there are about 40 families with this disease in the world. Sherrill Dinges, 29, is a member of one such family. All of her relatives are carriers of the FFB gene. She refuses the test. The FSB has already killed her mother, her grandfather and her uncle. Her sister did not inherit the fatal gene, and she herself refuses to be tested.

FSB begins with mild convulsions, increased anxiety and insomnia. Due to a long lack of sleep, patients eventually begin to hallucinate and become clouded, and after a few months they die.

In this article we will tell our readers about very rare diseases that nevertheless exist and may even have had an impact on some historical and mythological moments. Stendhal syndrome A person suffering from this disease, when entering a place where there are a lot of works of art, begins to experience excitement, increased heart rate and even hallucinations. For people who...