Hutchinson-Gilford syndrome

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Alternative names
Progeria

Definition
Progeria is a disease that produces rapid aging starting in childhood.

Causes, incidence, and risk factors

Progeria is a rare condition but has come into public awareness because its symptoms strongly resemble normal human aging as well as the appearance of several affected children in movies on national television.

Lamin A is the name of the gene recently identified as causing some types of progeria. Lamin A codes for a protein that surrounds the nucleus of cells. Further study of lamin A will hopefully answer why mutations in this gene cause such striking premature aging.

Progeria results in rapid aging of children, beginning with growth failure during the first year of life that results in disproportionately small bodies given the size of their heads. The children are thin with baldness, wizened narrow faces, and old-appearing skin.

Children with progeria develop early Atherosclerosis. The average lifespan is 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

There are no specific tests for this condition. The diagnosis is made based on the symptoms and signs found during a physical examination.

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.
P.O. Box 3453
Peabody, MA 01961-3453
Phone: 978-535-2594
http://www.progeriaresearch.org

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 per se, but prevention of some of the manifestations of the disorder relies on the same medical approaches for these complications in other disorders.

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