November 23, 2009

Strange Cases in Medicine Hutchinson-Gilford Syndrome

This week’s strange case in Medicine is Progeria, or Hutchinson-Gilford Syndrome. Progeria is a condition that causes the person to age rapidly during childhood. The condition is very rare at about a one in eight million chance to be born with it. Unfortunately, there is no cure for Progeria, and most people with the condition do not live past the age of thirteen.

The disease is caused by a certain genetic mutation that results in the creation of an unusable type of the protein Lamin A. This protein is normally one of the building blocks of the nuclear envelope. What makes Hutchinson-Gilford syndrome different than other accelerated aging diseases is that progeria is not caused by defective DNA repair. Also, other accelerated aging diseases generally display on some parts of aging, never every part.

Symptoms of Hutchinson-Gilford syndrome include failure to thrive and a localized scleroderma-like skin condition. As the child begins to age, more symptoms begin to present themselves. Limited growth is apparent, hair loss begins, and the child will usually develop a small face and jaw, and a pinched nose. As the child gets older, their bodies become more frail and fragile in appearance, and start getting wrinkled skin, atherosclerosis, and cardiovascular problems.

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