Hutchinson-Gilford syndrome

Definition

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

Alternative Names

Causes

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

• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Baldness
• 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

Exams 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.

Treatment

There is presently no treatment for progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Outlook (Prognosis)

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.

Possible Complications

• Stroke
• Myocardial infarction

When to Contact a Medical Professional

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 known prevention.