Progeria is a disease that produces rapid aging, beginning in childhood.
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 only very rarely seen in more than one child in a family.
- Growth failure during the first year of life
- Narrow, shrunken or wrinkled face
- Loss of eyebrows and eyelashes
- Short stature
- Large head for size of face (macrocephaly)
- Open soft spot (fontanelle)
- Small jaw (micrognathia)
- Dry, scaly, thin skin
- Limited range of motion
- Teeth - delayed or absent formation
Signs and tests
The signs include:
- Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
- Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
Genetic testing can detect mutations in lamin A that cause progeria.
There is presently no treatment for progeria.
Progeria Research Foundation, Inc. -- www.progeriaresearch.org
Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.
- Heart attack (myocardial infarction)
Calling your health care provider
Call for an appointment with your health care provider if you child does not appear to be growing or developing normally.
There is no known prevention.
Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 90.
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