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Last Updated: Saturday, 19 November 2005, 00:01 GMT
'Fragile skin gene' killed baby
Image of an anonymous baby
The baby boy (not pictured) died when he was only 10 days old
Scientists have solved the mystery of a skin condition that killed a newborn boy five years ago in the Netherlands.

The penny dropped when a UK skin expert from Manchester University heard about the infant's distressing case at a scientific meeting in France.

During birth, the boy's fragile skin blistered and started to come off. He died 10 days later from dehydration - he had too little skin to retain water.

Genes from the boy's parents caused this rare condition, scientists found.

Deadly blisters

When the boy's horrific symptoms were described, Professor David Garrod of Manchester University thought that a particular structure that holds the skin's natural scaffolding together might have gone awry.

Large sheets of the boy's skin came off leaving raw patches all over his body.

The baby also lost all of his hair and nails.

Despite his doctors battling to save him, the boy died after losing profuse amounts of fluid through his open sores.

After hearing the talk by Professor Marcel Jonkman and colleagues from Groningen and Utrecht Universities, Professor Garrod immediately thought about his own research into minute structures found in the skin and other body organs and tissues called desmosomes.

"Desmosomes bind the cells of our skin, heart and tissue - a bit like a glue," he explained.

Scaffolding breakdown

He approached Professor Jonkman and suggested that the problem might be a defect in a molecule known as desmoplakin, which links the desmosomes to the supporting structures and provides tissue strength.

Professor Jonkman went back to his lab to do further investigations and found that Professor Garrod's hunch was correct.

Genetic research has to be a major way forward
Professor Robin Eady, emeritus professor of Dermatology at King's College London

Both the baby's parents were carriers of different defective genes for desmoplakin, which meant there was a one-in-four chance that any baby they had together would carry both genes and become ill as a result.

The doctors called the boy's condition lethal acantholytic epidermolysis bullosa, and published their results in the American Journal of Human Genetics.

It is one example of a group of genetic skin blistering conditions collectively called epidermyolsis bullosa (EB) that are estimated to affect about 5,000 people living in the UK.

EB ranges in severity, and in some cases is lethal.

All forms of EB are genetic in origin and the genes responsible for the three key forms and some 20 subsets have been identified.

In some cases, couples known to be at risk can receive prenatal diagnostic testing at 8-10 weeks into pregnancy to ascertain if EB has been passed on to their baby.

DebRA UK is a national charity working on behalf of people EB.

Medical spokesman Professor Robin Eady, who is emeritus professor of Dermatology at King's College London, said: "It's very interesting because it tells us what is important in terms of sticking the skin together.

"This latest finding is terribly important in furthering out understanding about what can go wrong.

"These are very rare but debilitating and sometimes lethal conditions.

"Genetic research has to be a major way forward."




SEE ALSO:
Epidermolysis Bullosa
19 May 98 |  UK News


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