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PROGERIA
Progeria is a rare genetic condition that produces rapid aging in children.
Symptoms: Growth failure during the first year of life; Narrow, shrunken or
wrinkled face; Baldness; Loss of eyebrows and eyelashes; Short stature ... Progeria
is a rare genetic condition that produces rapid aging in children.
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. It usually is not
passed down through families. Rarely is it seen in more than one child in a family.
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
Signs and tests
The health care provider will perform a physical exam and order laboratory tests.
This may show:
Insulin resistance
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 changes in the gene that causes progeria.

Treatment
There is no specific treatment for progeria.
Support Groups
Progeria Research Foundation, Inc. -- www.progeriaresearch.org
Expectations (prognosis)
Progeria causes early death. Patients usually only live to their teenage years.
However, some patients can live into their early 20s. The cause of death is usually
related to the heart or a stroke.
Complications
Heart attack (myocardial infarction)
Stroke
Calling your health care provider
Call for an appointment with your health care provider if your child does not
appear to be growing or developing normally.
References
1.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.
Steps in normal cell
Steps in cell with progeria

The gene LMNA encodes a protein called prelamin A.

The gene LMNA encodes a protein called prelamin A.

Prelamin A has a farnesyl group attached to its end.

Prelamin A has a farnesyl group attached to its end.

Farnesyl group is removed from prelamin A.

Farnesyl group remains attached to prelamin A.

Normal form is called prelamin A.

Abnormal form of prelamin A is called progerin.

Prelamin A is not anchored to the nuclear rim.

Progerin is anchored to the nuclear rim.

Normal state of the nucleus.

Abnormally shaped nucleus.