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Children's progeria (the Hutchinson-Guildford syndrome)
Last reviewed: 23.04.2024
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Pediatric Progeria (Syndrome Hutchinson-Guilford syndrome) is a rare, probably genetically heterogeneous disease, with a predominantly autosomal recessive type of inheritance, the possibility of a new dominant mutation is not ruled out. It is characterized by age-related changes in the body in childhood with a fatal outcome, often occurring before the age of 15 from complications caused by atherosclerosis.
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Pathogenesis
Identify atrophic changes in the epidermis and dermis, thinning of the subcutaneous fat. In the skin densification zone of the epidermis of usual thickness and structure, the dermis is sharply thickened; in its lower part, the hyalinization of collagen fibers is observed, which spreads into the subcutaneous tissue in the form of interlayers. In the upper part of the dermis are moderate perivascular inflammatory infiltrates. The end sections of the sweat glands are located higher than the norm.
In the culture of fibroblasts obtained from patients and their heterozygous parents, a slowing of cell growth, a decrease in mitotic activity, a synthesis of DNA, and a cloning ability were observed. In a hybrid of fibroblasts in patients with Ehrlich ascites cells of mice, thymidine uptake was sharply reduced.
Symptoms of the child progeria
Skin thinned, dry, wrinkled, with translucent veins, expressed atrophy of muscles and subcutaneous tissue, dystrophy of teeth and nails, changes in the osteoarticular apparatus, myocardium, lens opacity, lipid metabolism disturbance. The disease manifests itself usually in 6-12-month-old age, slow growth, hair loss on the scalp, in the eyebrows, eyelashes. Note the discrepancy between the volume of the skull and a small face, underdevelopment of the lower jaw, beak-shaped nose, cyanosis around the mouth. The skin of the trunk is thin, pigmented, with scleropodic plaques. There is a hypoplasia of the genital organs, secondary sexual characteristics are absent.