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2004 PC Project Grant Award

Philip Fleckman, M.D.

University of Washington

Project Title:
National Registry for Ichthyosis and Related Disorde rs

Biography

Philip Fleckman, is Professor of Medicine (Dermatology) at the University of Washington. His research interests focus on controls of epidermal differentiation in normal and pathologic skin, the pathophysiology of ichthyosis vulgaris and other inherited disorders of keratinization, and the interface of skin with biomaterials. Most of these studies employ in vitro models of epidermis. His clinical interests are in individuals with inherited disorders of keratinization and with nail disorders. He is the Principal Investigator of the National Registry for Ichthyosis and Related Disorders, a member of the Board of Directors and the Medical and Scientific Advisory Board of the Foundation for Ichthyosis and Related Skin Types, editor of the Dermatology Online Journal ( http://dermatology.cdlib.org/ ), and a founding member and past President of the Council for Nail Disorders.

Abstract

The National Registry for Ichthyosis and Related Disorders has enrolled over 600 affected individuals for improvement of understanding of the diagnosis, pathogenesis and treatment of the ichtyoses. Diagnoses are confirmed by strict coinical, hitologic and biochemical criteria. Detailed historical, clinical, and quality of life information has been entered into a large database. Virtually all enrollees have asked to be informed of appropriate studies. A "bank" has been established of over 100 biopsy slides read by expert pathologists and over 130 DNA samples have been analyzed for mutations in genes underlying 12 disorders. Eight studies have been assisted by the Registry. This proposal is for support of the evolution of this valuable resource to maintain its viability for future investigations.