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Gene studies in patients with the inherited skin disease, keratolytic winter erythema, examining gene expression of skin-derived cells in culture following exposure to cold.

Peter R. Hull, MD, University of Saskatchewan, Saskatoon, Sask.

Keratolytic winter erythema is an inherited disease affecting males and females equally. Previous work has linked this disease to Chromosome 8 but the gene responsible for the disease has not been identified.
Young children are particularly affected and experience marked peeling of the palms and soles. This is regularly worse in the winter months. The disease causes much distress, particularly when secondary infection intervenes. The condition does improve in adulthood.
In some affected individuals target like areas of redness appear on the extremities and slowly expand with an active red border, trailing peeling and central healing. Such lesions suggest that in this condition there is abnormal communication between skin cells and this promotes the local spread of this condition.
This study will look at two aspects of this disease. Firstly we will examine changes in gene expression as skin cells in culture are challenged using cold. Secondly we will use a new technology to examine the critical region in Chromosome 8 looking for possible causative chromosomal deletions.
The study will further understanding in the events occurring in the skin and may eventually lead to better treatments.

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