Progeria

Definition

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. In addition, the appearance of several affected children in movies and on television have brought progeria to public attention.

Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs sporadically, and is not seen in siblings of affected children, although -- in very rare circumstances -- more than one child in a family can have progeria.

Progeria results in rapid aging of a child, beginning with growth failure in the first year of life. This results in a disproportionately small body given the size of the head. Progeria children (male and female) are thin and balding, with wizened narrow faces and old-appearing skin.

Children with progeria develop early atherosclerosis. 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.

Symptoms

• Growth failure during the first year of life
• Narrow, wizened (shrunken or wrinkled) bird-like faces
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly )
• Soft spot (fontanelle) remains open
• Small jaw (micrognathia )
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

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)
• There may be early atherosclerosis of blood vessels leading to abnormal stress tests of the heart

Mutations in lamin A that cause progeria can be found using gene sequencing, but this is not usually needed for diagnosis.

Treatment

There is presently no treatment for progeria. Support groups are available for the families of children with progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org, progeria@netzero.net

Expectations (prognosis)

Progeria is associated with a short lifespan.

Complications

• Stroke
• 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.

Prevention

There is no prevention for progeria, but prevention of some of the manifestations of the disorder follows the same medical approaches for the same complications in other disorders.

Illustrations

Coronary artery blockage

Page Content:

Hutchinson-Gilford syndrome ; hutchinson gilford progeria syndrome; hutchinson gilford syndrome