Harlequin Ichthyosis

Harlequin Ichthyosis Trust

Harlequin ichthyosis is the most severe and frequently lethal form of recessive congenital ichthyosis. The skin of babies born with this inherited condition forms thick hard diamond shaped plaques with deep fissures due to its inflexibility, which increases their susceptibility to infection. It may also cause the eyes, ears, mouth and other appendages to contract abnormally. This makes it difficult for them to feed. It is a rare condition that requires intensive care treatment. The survival rate of children born with this disease has improved over the years, but many will die within days of birth. Treatment will be required for their entire life.

The Bowen and Betts sisters from the Channel 5 documentary: The Girls With Too Much Skin

Research led by Professor David Kelsell of Barts and the London School of Medicine & Dentistry have identified mutations in the gene ABCA12 as the major cause of Harlequin Ichythosis. The protein produced from the ABCA12 gene is important in lipid (fat) transport, skin barrier formation and keratinocyte (skin cell) development. The purpose of this fund is to provide sums for research and education on Harlequin Ichthyosis. Aims will include the development of treatment options, promotion of international research collaborations to strengthen investigations into this rare condition, availability of prenatal screening tests and the dissemination of clinical best practice.

Donations

Donations are handled through the fundraising department of Barts and The London Charity:

Online donation
www.justgiving.com/harlequin-ichthyosis

Donation Form
download Donation form.

The Harlequin Ichthyosis Trust is a fund held under the auspices of Barts and The London Charity, no. 212563.