The National Registry for Ichthyosis and Related Disorders identifies and enrolls individuals affected with disorders of keratinization. They also have received government funding to perform molecular diagnosis to identify some of the specific genetic defects for enrolled individuals. Here’s your opportunity to discover which specific genetic mutation is the cause of your particular disorder. Unfortunately, there are limits as to who can be tested and what tests can be offered. However, this testing is a huge improvement in the knowledge that the Registry can obtain and share with its enrollees.

Over 700 individuals have already enrolled and are in the process. Besides the obvious benefit of molecular diagnosis, there are many other reasons to join the Registry. The Registry:

• encourages investigators to study the ichthyoses;
• finds better ways of diagnosing disorders and better treatments;
• collects information for their database as to how these disorders affect individuals, other health problems that may be associated to the ichthyoses, how other family members are affected, and different ways individuals treat their skin;
• seeks your interest in participating in research studies;
• takes posters and demonstrates at scientific meetings to educate dermatologists and scientists about using the Registry as a resource;
• publishes notices in medical journals;
• provides a doctor’s forum on their website for doctors to ask questions about ichthyosis.