Author: Vanessa Ngan, Staff Writer, 2005.
Premature ageing syndromes, also known as progeria, include two very rare inherited conditions, Hutchinson-Gilford syndrome and Werner syndrome. In both conditions, skin changes that indicate premature aging include:
These are changes that occur as the normal body ages (see ageing skin) but in progeria they occur at an accelerated rate.
|Hutchinson-Gilford Syndrome||Werner Syndrome|
|Occurs in about 1 in 8 million children||Occurs in about 1 in 1 million individuals|
|Signs of progeria begin to show around 6-12 months when the baby fails to gain weight and skin changes occur||First sign of syndrome is around puberty when the child fails to have a normal growth spurt, or may be delayed until an individual is as old as 30 years|
|Characteristic features include:
||Characteristic features include:
|Average life expectancy is 13 years, with approximately 75% dying from heart disease||Death usually occurs in patients between 30-50 years, with most dying from heart disease or cancer|
Both Hutchinson-Gilford syndrome and Werner syndrome are autosomal recessive disorders, which means an individual has inherited a mutated gene from both parents. 1 in 4 offspring would be expected to have the disorder and others may be carriers of the gene.
Werner syndrome appears to be caused by a defect at the WS gene (WRN) locus, which provides instructions to a protein called helicase. Werner syndrome is caused by a helicase defect, which affects the way DNA and RNA are replicated and repaired in the body.
The cause of Hutchinson-Gilford has only been discovered recently. It has been found that there is a mutation in the gene LMNA that produces the protein Lamin A, which is the structural scaffolding that holds the nucleus of a cell together. The cellular instability appears to lead to premature aging.
Complications of progeria are related to the diseases that are associated with ageing. In addition to skin changes, patients with Werner syndrome often develop the following conditions:
There is no specific treatment for progeria. Management of the syndromes is through symptomatic treatment of related diseases. Genetic counselling is very important.
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