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 General Pediatrics

Progeria

Progeria

Coronary artery blockage
Coronary artery blockage

Definition:

Progeria is a disease that produces rapid aging, beginning in childhood.

Alternative Names:
Hutchinson-Gilford syndrome
Causes, incidence, and risk factors:

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.

Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is not seen in siblings of affected children, although -- in very rare circumstances -- more than one child in a family can have the condition.

Symptoms:
Signs and tests:

The signs include:

  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
  • Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect mutations in lamin A that cause progeria.


Review Date: 7/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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