Progeria( hutchinson-guildford syndrome)
Its main manifestation is the slow development of the child and premature aging, which develops in childhood. It is assumed that progeria can be inherited in two types: both autosomal recessive and autosomal dominant. The mechanism of progeria development is still unclear. Both sexes( male and female) suffer from the same frequency. When examining pieces of skin tissue taken directly from a sick child, thinning of all layers of the skin and subcutaneous fat is noted.
Immediate symptoms of progeria begin to appear in the 2-3 year of the child's life, although in some cases can be noted already at birth. It can be noted that the child begins to noticeably lag behind in growth from his peers, while the body weight remains within the age limit. Subsequently, the main sign of the disease is the gradual appearance in the child of senile skin changes, which becomes especially noticeable on the skin of the face and limbs. The skin becomes dry, thin, there are wrinkles, first hardly noticeable, but with the passage of time deeper, their number begins to increase. In addition, you can see that the skin becomes lighter in some places, and in some, on the contrary, gets a darker color, which is due to the uneven distribution of skin pigment( melanin).In addition to skin changes, these children are characterized by their appearance: a relatively large head with thinning hair rushes into the eyes, frontal thighs protrude strongly, veins glare through the thin skin, giving the skin a cyanotic shade, a small, pointed face with a hooked nose, eyeballs
, the upper jaw is small. Teeth erupt late, underdeveloped, often there are fractures of bones, various curvatures of the spine. Subcutaneous fatty tissue is strongly thinned, there may be foci of compaction. Movement in the joints is limited. When examining the external genital organs, attention is drawn to their underdevelopment. Eye examination often reveals clouding of the lens. Children are more sensitive to sunlight. The death of people suffering from progeria, usually occurs at the age of 10-25 years from the complications of developed atherosclerosis.
Treatment of includes the intake of vitamin E, ascorbic acid. The child should observe a diet rich in proteins, but limited in terms of fats and carbohydrates.