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Cause of deadly skin disease found to be in the genes

Harlequin ichthyosis (HI) is a severe skin disease that is usually lethal in newborns.

A dense scale that covers the skin, with abnormal facial features, characterizes it.

The cause of HI was previously unknown. In a new study appearing in the July 1 print issue of The Journal of Clinical Investigation, Masashi Akiyama and colleagues from Hokkaido University report that mutations in a protein called ABCA12 are responsible for HI.

In this study, the authors show that ABCA12 is a lipid transporter in skin cells. They identify 5 mutations in 4 HI families.

In an accompanying commentary, Alain Hovnanian writes, "these results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder."

Stacie Bloom
press_releases@the-jci.org
212-342-4159
Journal of Clinical Investigation
http://www.jci.org

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