Old age at 13, skin like a vampire, and foreign accent syndrome - on Rare Disease Day Gazeta. Ru talks about the most unusual ailments of mankind.
In 2008, the last day of February was declared the day of rare (orphan) diseases. These include diseases that affect 1 in 1000 people or less. In Russia, it is proposed to consider diseases with a similar prevalence as rare - no more than 10 cases per 100,000 people.
In total, according to various sources, there are up to 7000 rare diseases. Gazeta. Ru tells about the most unusual of them.
Progeria
Despite its extreme rarity (about 350 reported cases), Progeria is a well-known disease. Due to a genetic defect, the patient's body is aging at a tremendous rate. Changes are noticeable as early as two or three years: thinned skin with translucent veins, a large head with a small face, an underdeveloped lower jaw.
The average life expectancy of patients with progeria is 13 years. They suffer from muscle atrophy, heart attacks, strokes, changes in bone tissue, atherosclerosis. Some are able to live to be 25-27 years old - for example, the South African musician and artist Leon Botha lived to be 26 years old. Another famous person with Progeria is Sam Burns, who lived to be 17 years old, an activist who was involved in disseminating information about his illness.
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Shortly before Burns's death, a documentary film "From Sam's Point of View" was shot about him. “I am not showing you my life to make you feel sorry for me. You do not need to feel sorry for me, because I just want you to get to know me better, to know about my life,”he commented on the release of the film.
Juner Thane Syndrome
In 2005, the Turkish biologist Juner Tan met the Ulas family, who lived in the countryside of Turkey. All of its members - five brothers and sisters - moved on all fours. Two occasionally took an upright position, three were completely "four-legged". In addition to the unusual way of walking, family members had speech problems and developmental delays.
The scientist suggested that this behavior could be a "rollback" in evolution, but the movement of members of the Ulas family was different from the movement of other primates - they rested on their palms, and not on the joints of the fingers.
“They do the same as any person who cannot get up,” says anthropologist Lisa Shapiro.
According to her, movement on four limbs was not a return to evolutionary origins, but an adaptation to the state of the body.
At the same time, the mobility of the fingers was not lost - women could embroider and crochet.
Presumably, a breakdown in the VLDLR gene, which is responsible for the development of the cerebellum, a region of the brain that regulates the coordination of movements and regulation of balance, is to blame for the disease. However, social factors could also play a role - parents did not try to teach their "four-legged" children to walk upright.
Xeroderma
Ultraviolet light is dangerous not only for fictional vampires, but also for very real people suffering from xeroderma pigmentosa. This is a genetic disease in which the body is unable to withstand the damaging effects of ultraviolet radiation.
The disease usually manifests itself at the age of two to three years. After being in the sun, a child has peeling, irritation, spots on open skin areas. Symptoms worsen with each subsequent episode of exposure to sunlight. A few years later, in some places there is skin atrophy, uneven pigmentation, vascular formations, cracks, crusts.
The disease affects not only the skin, but also the connective tissue.
As a result, over time, the nostrils, ears, and mouth are deformed. In the final stage, the disease leads to the appearance of benign and malignant tumors. 2/3 of patients die before the age of 15.
The only way to prolong the patient's life is to avoid exposure to ultraviolet radiation as much as possible (wear closed clothes, use sunscreen), use drugs that reduce the sensitivity of the skin to the sun's rays and get rid of neoplasms on the body as soon as possible.
Ichthyosis
The disease was named for the similarity of the skin of patients with fish scales. With ichthyosis in the body, the synthesis of keratin is disrupted, which leads to keratinization of the skin to varying degrees, depending on the form of the disease - in some cases it turns out to be incompatible with life.
One of the famous patients with severe ichthyosis is a young American woman named Hunter Steinitz.
In documentaries, she tells how she copes with the disease - spends up to several hours a day in the bathroom, with the help of a health worker, gets rid of excess skin scales and uses a whole arsenal of creams and lotions to soften the skin and avoid moisture loss - the drying of the skin of patients with ichthyosis increases peeling and cracking.
Skin lesions lead to a number of other problems. So, due to the thickening of the skin over the years and the inability of the skin to secrete sweat, patients with ichthyosis are prone to overheating. Also, due to the thickening of the skin, they may lose the ability to blink. In some cases, the disease leads to baldness.
Epidermolysis bullosa
Epidermolysis bullosa is the formation of blisters and erosions on the skin with even minor mechanical injuries. The disease is associated with defects in the genes responsible for the formation of proteins - their correct work is necessary for regeneration. It manifests itself at an early age, such children are called "butterfly children".
There are no radical methods of treating epidermolysis bullosa - all help to patients consists in preventing skin damage and in caring for the resulting blisters.
However, in 2017, scientists managed to use gene therapy to cure a boy who had 80% of his skin affected.
From genetically modified stem cells of the boy's epidermis, German doctors created skin grafts, which were transplanted onto the affected areas of the body - arms and legs, the entire back, sides, and partly onto the stomach, neck and face. After the first operation, performed in October 2015, the boy's condition began to improve. A few years later, after replacing all the affected areas, the new skin performed all functions, even the hair follicles were active. The boy was able to attend school and actively participate in the life of the family.
Foreign accent syndrome
This pathology is not associated with genes, but, as a rule, with head injuries or strokes. In case of illness, the speech of patients is still intelligible, but they use pronunciation and intonation characteristic of another language. To date, only about 60 cases of the syndrome are known.
One of the patients, American Michelle Myers, went to bed in the evening with a terrible headache in 2015. When she woke up, she realized that she had a British accent, which remained with her for years to come. Before that, according to Myers, after the same severe headaches she woke up with Irish and Australian accents, but they disappeared after a week.
Alla Salkova
