The condition, called Incontinentia Pigmenti, occurs only in women and affects the skin, hair, eyes and nervous system. Dr Sue Kenwrick, of the Wellcome Trust Centre for the Molecular Mechanism of Disease and the Department of Medicine, at Cambridge University, said the condition was difficult to diagnose and sufferers could often be treated for entirely different diseases, such as herpes or sepsis, a kind of blood infection. New-born and infant girls with IP develop a blistering rash similar to chicken pox or herpes. The blisters can become wart-like and brown swirls of pigment mark the skin. Other consequences of inheriting the disease include abnormal or missing teeth, bald patches on the scalp, visual defects, strokes and seizures.
Male foetuses can also develop the disease, but they die at an early stage in pregnancy.
In research due to be published this week in Nature, the team, that also includes Cambridge researchers Dr Hayley Woffendin and Tracy Jakins, describe how identifying the gene will lead to a better understanding of how this happens. Researchers in Britain, France, Germany, Italy and America studied more than 150 families to trace the cause of IP to a defect in a gene on the X-chromosome. Cells using that chromosome are killed around the time of birth, but because females have two X-chromosomes, they are able to survive. We are all very pleased that families with this condition will be able to get better diagnosis and advice.