People with unusual illnesses. The most terrible diseases that disfigure people

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 re-done everything, 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 specialists While they are 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 sparse 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 wear sunscreen when going outside, as they cannot be exposed to direct sunlight.At the same time, 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 manifested in excess hair growth, which is not typical this area skin that 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 to 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). People first started talking about premature aging syndrome 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 his immune system from stopping the warts from growing. 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 was also found to have a low level of leukocytes in his 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. Several times a day she needs dressings and treatment with antimicrobial ointments and gels. In addition, for all 9 years Lisa has been accompanied by pain.

Mermaid Syndrome

One of the rarest developmental anomalies 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. Famous girl became 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. The official statistics are as follows: 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 human nervous, muscular and lymphatic systems.

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 different nature, however, the vast majority of phenomenal ailments are associated with genetic abnormalities and infections.

It's worth noting right away that some of the diseases on this list are very unpleasant to look at, so open photos with caution. Fortunately, they are incredibly rare, and nowadays doctors have become much better at understanding them. Health and strength to those who suffer from them and their families!

2. Werewolf syndrome (hypertrichosis)

Hypertrichosis can be either congenital or acquired. The congenital type of the disease is incredibly rare - only 50 cases have been reported since the Middle Ages. Treatment congenital disease usually includes laser removal hair. Acquired disease is usually associated with external factor, for example, a reaction to medications, most often minoxidil. Fortunately, to cure an acquired disease, it is enough to eliminate the exogenous factor. Cats are also susceptible to the disease, although such cases are incredibly rare.

3. Vampire syndrome (porphyria)

Porphyria includes at least 8 disorders that are united increased content porphyrins in the body. Although these are natural compounds, sufferers of this disorder cannot control their levels and subsequent accumulation leads to the development of the disease. The proportion of people with porphyria worldwide ranges from 1 to 500-50,000 healthy people, but this includes mild forms of the disease. The photo shows the most severe case, however, even with indolent forms of the disease, symptoms may include psychical deviations, paralysis, red urine, sensitivity to sunlight, thinning skin and itchy blisters that take weeks to heal.

4. Microcephaly

There is no broad definition for this disorder, but it is generally diagnosed when the head circumference is at least two standard deviations less than the norm corresponding to age and gender. The disorder can be caused by a number of different factors. Microcephaly is usually accompanied by a reduction in life expectancy and mental disability - although this depends on the presence of certain abnormalities.

5. Statue syndrome (fibrodysplasia ossificans progressive)

Fibrodysplasia or FOP is a disease in which over time the muscles and connective tissues, such as tendons and ligaments, ossify - that is, they literally turn into bones. This limits movement and results in complete immobility. Surgery to remove the affected areas only forces the body to “repair” itself with even more intense bone formation. Typically, the first symptoms of the disease appear at the age of 10 years. Only about 700 cases of FOP have been reported worldwide, making it one of the rarest diseases. There are no known cases of healing, and all treatment is aimed only at improving the quality of life of patients.

6. Living dead syndrome (Cotard's delusion)

Cotard's delusion, known as walking dead syndrome, is rare mental disorder, which forces the patient to believe that he is dead. Although, oddly enough, in 55% of cases patients also consider themselves immortal. Sufferers of this disorder believe that they are rotting and have lost their blood and internal organs. Treatment includes both drug therapy, and psychotherapy. Electroconvulsive therapy has also proven effective. This disorder, which seems to be outlandish, has been mentioned in the popular TV series Hannibal, Black Box and Scrubs.

7. Accelerated aging syndrome (progeria)

Progeria is an extremely rare genetic disease that causes symptoms of aging to appear in at a young age. This disorder is most often caused genetic mutation, than by heredity, since its carriers usually do not live long enough to reproduce. The incidence rate is very low, with the disorder affecting only 1 in 8 million births. On this moment there are 100 reported cases worldwide, although about 150 are considered unrecognized. Despite efforts, no treatment has yet been shown to be effective, so doctors are focusing on treating complications such as heart disease. Most patients live to 13 years of age and die from disorders that occur in older people, such as heart attack and stroke.

8. Man-tree disease (epidermodysplasia verruciformis)

Epidermodysplasia verruciformis, nicknamed “tree man disease,” is an incredibly rare genetic skin disorder. Typically characterized by high susceptibility to cutaneous form HPV virus. Massive uncontrolled HPV infections lead to rapid growth scaly spots and warts that resemble tree bark. Complete healing While this is not possible, doctors can only suggest removing the “bark.” The photo above shows Indonesian Dede Koswara, who became the subject of a show on the Discovery Channel. The channel paid for an operation to remove warts in 2008 - 95% of warts weighing 6 kg were removed from his skin. Alas, they have grown again, and in order to control them, Dede has to go under the knife twice a year.

People get sick all the time. From infancy until death we are persecuted 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

Photo: Lanbiencondao.com

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.

Photo: Upi.com

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. Among the scientists studying the tribe's inhabitants, physician Carlton Gaidushek expressed doubt 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 gave Gajdushek the idea that the cause of its occurrence was cannibalism. Aboriginal people became infected strange disease due to the fact that they ate the brains of deceased fellow tribesmen. And indeed, after this action was stopped, the disease went away and did not appear again.

The rarest diseases in the world. Progeria

Photo: Tamilrockers.club

One of the rarest diseases, most often affecting children, 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–Helford 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 rapidly appear on the skin and hair falls out. After just a few months, the child begins to look like an old man.

Photo: Idiva.com

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, has not yet been created. And it is unknown how long it may take to find him.

The rarest diseases in the world. Syndrome "X"

Photo: Nangmuihanquoc.vn

A case of this disease has been 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

Photo: internalmedicine.pagesperso-orange.fr

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 contact with a person. 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

Photo: Topnewstoday.in

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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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 surgical intervention. 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. O This is a congenital disorder that causes excessive growth of various parts of the body. 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 previously affected by a 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 the skin. 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 torn hole in the middle of the 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 this disease, the body becomes covered in painful bloody rash and acne. 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 the 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 that 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. Sufferers of this skin condition should avoid exposure to 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.

It is impossible to cure a genetic disease, but it is also impossible to get infected accidentally. There are quite a lot of rare diseases in the world, most of which are associated with DNA damage.

Epidermolysis bullosa. The essence of this terrible disease consists in the fact that from any touch the skin swells, forming a bubble. It subsequently bursts, leaving a bleeding and painful wound. Like the wings of a butterfly, the skin slowly dies when touched. There is no cure, ulcers affect the mucous membranes, esophagus, and internal organs. Everything hurts - moving, drinking, eating, living.

Cystinosis. A disease that can turn a person to stone. The entire body, especially the kidneys, lymphatic system and blood, accumulates an abnormal amount of cystine, which gradually turns into crystals that cause hardening of the body's cells. Over time, this leads to petrification. The man is slowly but steadily turning into a statue. Most patients with cystinosis are young children who are not destined to live to adulthood. Their life depends on chemicals and medical supplies taken daily. This terrible disease is causing a slowdown physical development- children can't stand it physical exercise and stop growing. Interestingly, the brain remains intact. Medicine is powerless; it is only possible to slow down the pathological process a little.

Cataplexy. Despite all the horror of what is happening to the patient, the symptoms of cataplexy may seem quite funny. Any strong emotion leads to a sudden relaxation of all the muscles of the body and causes loss of consciousness. Fear, embarrassment, anger, joy and even love experiences end in fainting. Seizures can occur up to forty times a day. Medicine is interested in cataplexy for another reason - the disease usually occurs together with narcolepsy.

Extrapyramidal system syndrome. The disease manifests itself in an excessive number of involuntary movements. Attacks overtake a person suddenly: with absolute muscle relaxation, uncontrollable twitching of the limbs and facial muscles appears. Subsequently, the disease causes mental changes and weakens mental abilities, causing insanity. The worst thing is that a person knows about the disease from childhood and can only wait in horror for it to manifest itself. As a rule, this occurs between 30 and 50 years of age. The disease is currently incurable.

Acromegaly. The disease is caused by excessive production of somatotropin, which leads to a significant increase in the human skeleton or certain parts of the body. The reason is benign tumor, located near the pituitary gland, which intensively produces growth hormone. Symptoms become obvious only in physical sensations: intolerance to bright light, double vision, decreased hearing and sense of smell. Then there is a gradual growth of bones and soft tissues, the face becomes larger, the jaws and internal organs increase. The patient suffers from headache, drowsiness and general weakness. Acromegaly has long been studied by doctors, however, effective treatment doesn't exist yet.

Progeria- One of the rarest genetic diseases in the world. There are no more than a hundred cases of progeria known, and only a few people are living with the diagnosis. It can be called pathological accelerated aging. The processes in cells that accompany the disease are not completely clear.

The child develops normally for the first year and a half, and then suddenly stops growing. The nose becomes sharper, the skin becomes thin, covered with wrinkles and spots, like old people. Other symptoms characteristic of older people also appear: baby teeth fall out, permanent teeth do not grow, the head goes bald, the functioning of the heart and joints is disrupted, and muscles atrophy. Patients do not live long - usually 13-15 years. There is another option adult form diseases. It affects people of mature age.

Angelman syndrome

It occurs due to the absence of several genes on chromosome 15. The first symptoms of the disease are noticeable even in childhood: the child grows poorly, does not speak, often laughs for no reason, his arms and legs involuntarily twitch or tremble slightly, and epilepsy may appear. He develops much more slowly than his peers, especially in terms of intelligence. Most of these children, becoming adults, will never learn to speak, or will master several in simple words. However, they understand much more than they can express. Patients received the name happy puppets for their frequent causeless laughter and walking on stiff legs, which is very characteristic of the syndrome.

Gunther's disease

The rarest disease - there are about 200 cases in the world. It is a genetic defect in which the skin has very high photosensitivity. The patient cannot stand light: his skin begins to itch, becomes covered with blisters and ulcers. Appearance Such a person is terrible, he is all covered with scars and healing wounds, pale and emaciated. Interestingly, teeth can be stained red.

It seems that it was those suffering from Gunther's disease who served as the prototype for the creation of the image of a vampire in literature and cinema. After all, they also avoid sunlight - it is literally destructive to the skin.

Robin syndrome

The disease is quite rare and there is still a lot of unknown about it. A child born with this syndrome cannot breathe or eat normally because his lower jaw is underdeveloped, there are clefts in the palate, and his tongue is sunken. In some cases, the jaw may be absent altogether, giving the face characteristic bird-like features. The disease is treatable.

Progeria. Occurs in one child out of 8,000,000. This disease is characterized by irreversible changes in the skin and internal organs caused by premature aging body. Average duration The lifespan of people with this disease is 13 years. There is only one known case in which the patient reached the age of forty-five years. Was recorded in Japan.

During the Middle Ages, people with a similar gene defect were called werewolves or apes. This disease is characterized by excessive hair growth throughout the body, including the face and ears. The first case of hypertrichosis was recorded in the 16th century.

One of the rarest gene failures. It makes its owners very sensitive to the widespread human papillomavirus. In such people, the infection causes the growth of numerous skin growths that resemble wood in density. The disease became widely known in 2007 after a video of 34-year-old Indonesian Dede Kosvara appeared on the Internet. In 2008, a man suffered complex operation to remove six kilograms of growths from the head, arms, legs and torso. New skin was transplanted onto the operated parts of the body. But, unfortunately, after some time the growths appeared again.

In carriers of this disease the immune system inactive. People started talking about the disease after the film “The Boy in the Plastic Bubble,” which appeared on screens in 1976. It tells the story of a small disabled boy, David Vetter, who is forced to live in a plastic bubble. Since any contact with the outside world could be fatal for the baby. In the film, everything ends with a touching and beautiful happy ending. The real David Veter died at the age of 13 after doctors failed to strengthen his immune system.

What are genetic diseases?

Everyone has it healthy person there are 6-8 damaged genes, but they do not disrupt cell functions and do not lead to disease, since they are recessive. If a person inherits two similar abnormal genes from his mother and father, he becomes ill. The probability of such a coincidence is extremely low, but it increases sharply if the parents are relatives. For this reason, the incidence of genetic abnormalities is high in closed populations.

Every gene in human body responsible for the production of a specific protein. Due to the manifestation of a damaged gene, the synthesis of an abnormal protein begins, which leads to impaired cell function and developmental defects.

A doctor can determine the risk of a possible genetic anomaly by asking you about diseases of relatives “up to the third generation” on both your side and your husband’s side.

There are a great many genetic diseases, some of which are very rare.

Here are the characteristics of some genetic diseases.

Down syndrome- a chromosomal disorder characterized by mental retardation and impaired physical development. The disease occurs due to the presence of the third chromosome in the 21st pair. It is the most common genetic disorder, affecting approximately one in 700 births. The incidence of Down syndrome increases in children born by women over 35 years old. Patients with this disease have a special appearance and suffer from mental and physical retardation.

Turner syndrome- a disease affecting girls, characterized by partial or complete absence one or two X chromosomes. The disease occurs in one in 3,000 girls. Girls with this condition are usually very short and their ovaries do not function.

Rare genetic diseases in children

Osteogenesis imperfecta is a hereditary disease that causes a decrease in bone mass and causes increased fragility. It is assumed that the cause of osteogenesis imperfecta is a congenital disorder of collagen metabolism. In cases where osteogenesis imperfecta manifests itself after childbirth, they speak of a dominant type of inheritance, i.e. a child may become ill if one of his parents suffers from this pathology. A severe form of the disease, in which a child is born with multiple fractures or receives them during childbirth, is inherited recessively, i.e. if the gene pathological, is present in both parents.

Progeria a very rare genetic defect, expressed in extensive changes in the skin and internal organs caused by premature aging of the human body. There are 52 cases of progeria recorded on our planet. Children with progeria do not differ in appearance from ordinary children until six months after birth. But later they develop symptoms characteristic of old age: the skin becomes covered with wrinkles, bones become brittle, and atherosclerosis develops. Children with this terrible genetic defect die between the ages of 5 and 15 years. Childhood progeria is caused by gene mutations; DNA repair defects have been found in the cells of children with progeria.

Ichthyosis - This is a hereditary skin disease that occurs as a dermatosis. It is characterized by a diffuse disorder of keratinization and manifests itself in the form of scales on the skin. The main cause of ichthyosis is a gene mutation, the inherited biochemistry of which has not yet been deciphered. Protein metabolism disorders are the main manifestation of the gene mutation that leads to ichthyosis. Most forms of ichthyosis affect one person in tens of thousands.

Conclusion. These diseases are currently difficult to treat, and children become disabled from birth. It is necessary not only to improve treatment methods, but also to introduce them to the etiology of these diseases, which is especially important for people who have chosen the profession of a doctor in the future.

Sources: pikabu.ru, ljrate.ru, bigpicture.ru, www.sweli.ru, medconfer.com

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