Matthias Schmuth, MD

Dr. Matthias Schmuth

From August 31 to September 2, 2007, the First World Conference on Ichthyosis was held in Muenster, Germany. Organizers of the meeting included the Network for Ichthyosis and Related Keratinization Disorders (NIRK), GENESKIN, a European Union-funded research network for rare genetic skin disease, and the German patient support group "Selbsthilfe Ichthyose." Researchers from Africa, Europe, Israel, Japan, and the United States attended the meeting. Patients and members of various European patient support groups actively participated by giving very resourceful lectures on therapeutic pearls and appropriate disease management. An entire session covered current treatments and included a presentation on the 'TOMESA experience," an inpatient facility in Bad Salzschlirf, Germany dedicated to the treatment of disorders of cornification.

The current state of experimental therapies in the laboratory was discussed including gene therapy for Sjogren-Larsson disease, enzyme replacement therapy for lamellar ichthyosis, oligonucleotide therapy for epidermolytic hyperkeratosis, and also cell based therapies for epidermolysis bullosa. Albeit promising, all of these attempts are still in the laboratory stage.The majority of the talks, however, were focused on advances in the molecular understanding of the ichthyoses to understand how individual gene mutations cause the disease. There was a panel discussion on how to simplify disease classification of the ichthyoses while at the same time accounting for the increasing diversity of mutations and phenotypes that are being reported from all over the world.

This meeting was an excellent opportunity for international exchange of research and patient groups. It is very encouraging to see how much activity there is. The abstract book of this excellent meeting can be requested from brigitte.willis@ukmuenster.de.

Dr. Matthias Schmuth practices Dermatology at University of California in San Francisco, California, and is a member of The Foundation's Medical & Scientific Advisory Board