10 unusual diseases, of which you may not know
Nature is boundless and amazing in all its manifestations, including at the most pleasant and safe for humans. For example, even the best of doctors is not given to all to understand the diseases that afflict humans. Many believe that a healthy lifestyle and regular maintenance procedures provide absolute protection against a variety of health problems, but sometimes people are "caught" by such diseases, which are not even heard. Here are some of the exotic diseases.
1. Progressive lipodystrophy
People suffering from this disease an unusual look much older than his age, so it is sometimes called "reverse syndrome of Benjamin Button." For example, in one of the known cases of this sort of lipodystrophy 15-year-old Zara Hartshorn (Zara Hartshorn) is often mistaken for the mother of her older 16-year-old sister. What is the cause of this rapid aging?
Due to inherited genetic mutations, and sometimes as a result of the use of certain drugs in the body violated by autoimmune mechanisms, which leads to a rapid loss of subcutaneous fat stores. Most often suffer from fatty tissues of the face, neck, upper limbs and trunk, causing wrinkles and folds. So far only confirmed 200 cases of progressive lipodystrophy, and mostly it occurs in women. In the treatment, doctors use insulin, "lift" of the face and collagen injections, but it gives only a temporary effect.
2. Syndrome "stone man"
This congenital hereditary pathology, also known as progressive ossificans fibrodisplations or Myunheymera disease arises due to a mutation of a gene and is one of the rarest diseases in the world. The bottom line is that the inflammatory processes occurring in the ligaments, muscles, tendons and other connective tissues, lead to calcification and ossification of matter, which is fraught with serious problems with the locomotor apparatus. This disease is also called the "disease of the second skeleton," as in the human body there is a strong growth of bone tissue.
At the moment, 800 cases fibrodisplations registered in the world, and yet doctors did not find effective treatments or prevention of the disease - to facilitate the participation of the patient are used only painkillers. I must say, it is hoped to remedy the situation, as in 2006, the scientists were able to discover what kind of genetic disorder resulting in the formation of the "second skeleton", and is currently active in clinical trials conducted in order to develop ways to fight this terrible disease.
3. Geographic tongue
The curious name for the disease, is not it? However, there is a scientific term for this "sore" - desquamative glossitis.
Geographic tongue is shown in about 2, 58% of people, with most of the disease is chronic and aggravated properties after eating, during times of stress or hormonal stress.
Symptoms appear in the emergence of language discolored smooth spots that resemble islands, because the disease and received such an unusual nickname, with eventually some "islands" change their shape and position, depending on which of the taste buds located on the tongue, heal, and which, on the contrary, irritated. Geographic tongue is practically harmless, if not to take into account the increased sensitivity to spicy food, or some discomfort that it can cause. Medicine known causes of this disease, but there is evidence of a genetic predisposition to its development.
Under this somewhat funny name hides a terrible congenital defect in which the bowel loops and other internal organs fall out of the body through the crack in the front wall of the abdomen.
According to statistics from the American doctors, gastroschisis occurs at an average of 373-x in 1 million newborns, with the young mothers the risk of a child with such a deviation is slightly higher. Earlier, about 50% of babies with gastroschisis have died, but through the development of surgery mortality rate was reduced to 30%, and in the best clinics of the world manage to save approximately nine out of ten children.
5. xeroderma pigmentosum
This is a hereditary disease of the skin is manifested in increased sensitivity of the human to ultraviolet rays. It occurs because of mutations of proteins responsible for correcting DNA damage, appearing when exposed to ultraviolet radiation. The first symptoms usually appear in early childhood (up to 3 years): when a child is in the sun, he having serious burns after a few minutes of exposure to sunlight. Also, the disease characterized by the appearance of freckles, dry skin and uneven changes in skin color.
According to statistics, people with xeroderma pigmentosum are at particular risk of developing cancer: in the absence of appropriate preventive measures, about half of children suffering from xeroderma, to ten years of developing certain cancers. There are eight types of this disease of varying severity and symptoms. According to European and American doctors, the disease occurs in about four people out of a million.
6. Arnold Chiari malformation
In simple terms, the essence of this disease is that because of the rapid growth in the brain slowly developing bones of the skull occurs dive cerebellar tonsils into the foramen magnum with compression of the medulla oblongata.
Previously it was thought that the deviation is purely innate character, but recent studies show that it is not. The frequency of monitoring this anomaly range from 33 to 82-x cases per million, with her diagnosed in both children and adults.
Malformation of Arnold Chiari is of several types, from the most common and the least heavy of the first, to a very rare and dangerous fourth. Symptoms may occur in the different ages, and often begin with severe headaches. Recognized as one of the methods when the disease is surgical decompression of the skull.
7. Alopecia areata
The causes of this disease are at the cellular level - the immune system mistakenly attacks the hair follicles, leading to hair loss. One of the most severe and rare form of this disease, alopecia totalis, can lead to complete loss of hair on your head, eyelashes, eyebrows and hair leg cover, thus, in some cases, the follicles are able to regenerate itself.
Disease susceptible to approximately 2% of the world population, and the currently developed methods for the treatment and prevention of disease, however, anti-alopecia areata complicated by the fact that in the initial stages of deflection is characterized only by itching and skin sensitization.
8. A nail-patella syndrome (nail-patella syndrome)
This disease is manifested in a mild form in the absence or abnormal growth of nails (with excrescences and recesses), but its symptoms may be quite varied - even to a serious skeletal abnormalities such strong deformation or absence of the patella. In some cases, there are visible growths on the back surface of the ilium, scoliosis and patellar luxation.
Rare hereditary deviation occurs because of gene mutation LMX1B, which plays an important role in the development of limbs and kidney. The syndrome occurs in 1 person out of 50 thousand, but the symptoms are so varied that sometimes incredibly difficult to identify the disease at an early stage.
9. Hereditary sensory neuropathy, the first type of
One of the rarest diseases in the world: this type of neuropathy is diagnosed in two people out of a million. The anomaly occurs because of lesions in the peripheral nervous system, which occurs due to oversupply of PMP22 gene.
The main symptom of hereditary sensory neuropathy of the first type is the loss of sensation of hands and feet. A person ceases to feel pain and feel the change in temperature, which can lead to tissue necrosis, for example, if time does not detect a fracture or other injury. Pain - one of the reactions of the body that signal any "failures" so fraught with loss of pain sensitivity is too late detection of dangerous diseases, whether it's an infection or ulceration.
10. The congenital myotonia
If you've ever heard of fainting goat, you know about what it looks like congenital myotonia - due to muscle spasms man for a while as if transfixed. The cause of congenital (congenital) is a genetic disorder myotonia: due to mutation disrupted chlorine skeletal muscle channels. Muscle tissue is "confused", there are voluntary contractions and relaxation, with pathology can affect the muscles of the legs, arms, jaws and aperture.
Now doctors have no effective way to solve this problem, in addition to radical medical treatment (with drugs, anticonvulsants) in the most severe cases. Almost all those suffering from this disease, doctors recommend regular exercise alternated with smooth muscle relaxation movements. I must say, despite some inconvenience, people with this disease may well live a long and happy life.