Progeria (Hutchinson–Gilford syndrome) – review of current literature

Hutchinson–Gilford progeria syndrome (HGPS), also known as juvenile progeria, is a genetic disorder associated with abnormalities in the structure and function of nuclear envelope proteins. The disease begins in childhood and causes rapid aging. Affected children usually appear normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate. They develop a distinctive facial appearance, including prominent eyes, a thin nose with a curved tip, thin lips, a small chin and protruding ears. Hutchinson–Gilford progeria syndrome also causes hair loss, premature skin aging, joint abnormalities and loss of fat under the skin. This condition does not affect intellectual development or the development of motor skills such as sitting, standing and walking. It affects 1 in 4 million children worldwide and so far 150 cases have been reported, mostly boys. The average survival is 15 years.

In recent years, there has been significant progress in the understanding of the molecular causes of this rare condition, which contributes to the development of new treatments for this rare condition, to the understanding of the causes of physiological aging in humans and may result in the development of new methods to slow this process.