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telegraph.co.uk LONDON Research into a rare genetic disorder which makes sufferers grow more skin in one day than a healthy person does in two weeks has identified a mutation which may lead to development of new treatments. Harlequin ichthyosis is painful and incurable, and carries a constant threat of infection. Two sets of sisters, Lucy and Hannah Betts and Dana and Lara Bowen, who have the condition, have to painfully exfoliate twice a day and live in a sterile environment, while many sufferers die within days of birth. However, research led by Professor David Kelsell of St Bartholomew and the Royal London Hospital School of Medicine and Dentistry has identified a mutation in a gene known as ABCA12 as a major cause of the disease.
It is hoped that the discovery will lead to new treatment options and the possibility of prenatal screening. In a new documentary to be shown on Channel 5, Lucy and Hannah's father Clive tells of his shock at his daughters' appearance at birth, saying that they looked "like something from space - like an alien", and admitting that he did not expect them to live. Their paediatrician, Professor John Harper, feels similarly, saying that sufferers of the rare condition - only six cases are known in the UK - are "just not compatible with living." The documentary follows the Betts and the Bowens, the bonds that the two families have developed in the face of their children's illness, and the insights that genetic analysis is giving into the disease.
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