Progeria ( Hutchinson -Gilford syndrome)

August 12, 2017 17:52 | Genetic Diseases

Its main manifestation is the slow development of the child and its premature aging, which develops in childhood.It is assumed that progeria may be inherited into two types: both autosomal recessive and autosomal dominant.Progeria Development Mechanism is also still unclear.Both sexes (male and female) are ill with the same frequency.In the study of pieces of skin tissue taken directly from a sick child, there is a thinning of the layers of the skin and subcutaneous fat.

Immediate symptoms of Progeria begin to appear on the 2-3 year of life, although in some cases may be observed at birth.It may be noted that the child begins to significantly stunted by their peers, body weight, however, it remains within the age norm.Subsequently, the dominant feature of the disease becomes progressive appearance of the child senile changes in the skin that is especially noticeable on the face and extremities.The skin becomes dry, thin, wrinkles appear, at first barely noticeable, but with deeper, begins to increase an

d the number over time.Furthermore, it can be seen that the skin in some places becomes lighter and, in some, on the contrary, becomes darker because of the uneven distribution of skin pigment (melanin).In addition to skin changes, for these children is characterized by the appearance: in the eye catches a relatively large head with thinning hair, frontal mounds strongly advocate, through the thinned skin translucent veins, giving the skin a bluish tint, face a small, pointed, with a hooked nose, eye

applesvypyachena, small upper jaw.The teeth erupt late underdeveloped, there are often broken bones, a variety of spinal curvature.Subcutaneous adipose tissue dramatically thinned, can meet seals pockets.The movement in the joints is limited.On examination of the external genitalia is noteworthy their underdevelopment.In the study of the eye is often diagnosed cataract.Children have a high sensitivity to sunlight.The death of people suffering from progeria, usually occurs between the ages of 10-25 years old from complications of established atherosclerosis.

Treatment includes vitamin E, ascorbic acid.The child should follow a diet rich in proteins, but limited in terms of fats and carbohydrates.