Calling All Ichthyosis Patients - Gene Discovery Opportunity

Date: 09/27/2012

Keith Choate, MD, PhD

Dr. Keith Choate and his team from Yale University are hosting a clinical and genetics study dedicated to an increased understanding of ichthyosis.

The study has two parts – the first part works on finding the genetic basis of ichthyosis and the second part is focused on understanding how mutations in specific genes genotype) give rise to unique physical findings in each person (phenotype). 

Anyone affected with ichthyosis is invited to become a part of this exciting study, which includes genetic screening to confirm and/or search for the mutation that causes your particular ichthyosis.

In order to be eligible, you must have a diagnosis of ichthyosis or other disorder of keratinization to participate.  You must also currently be under the care of a dermatologist.

At this time the study is not enrolling patients with diagnoses of ichthyosis vulgaris nor X-linked ichthyosis. The study is particularly interested in enrolling people who have severe forms of ichthyosis or unclassified forms as well as those who have never had genetic testing or who have had genetic testing without finding a disease-causing mutation.

If you feel that you meet the above criteria, please email Dr. Craiglow at for more information.