Dr. Uitto is a dermatologist and an established authority in the field of connective tissue biology. He is renowned for his work on the extracellular matrix related to cutaneous diseases that include a heritable condition known as epidermolysis bullosa (EB), characterized by fragility of the skin at the dermal-epidermal basement membrane zone (BMZ). In the past decade, Dr. Uitto's research group has cloned several of the cutaneous BMZ genes and identified a vast number of genetic mutations that underlie the variants of EB. Elucidation of the mutations has had significant impact on the care of patients as a result of refined classification with prognostic implications, improved genetic counseling, and establishment of DNA-based prenatal testing during the first trimester of pregnancy. Dr. Uitto has established the Institute's Molecular Diagnostics Laboratory, which serves as the referral center for mutation analysis and prenatal testing of families with EB around the world.

Over the past two decades, Dr. Uitto has also worked on the transcriptional regulation of the expression of genes that encode various extracellular matrix proteins. His earlier work contributed significantly to the elucidation of defects in the extracellular matrix of diseases, such as cutis laxa, actinic elastosis, elastoderma, and the Buschke-Ollendorff Syndrome. Dr. Uitto has published extensively on the regulation of collagen, elastin, proteoglycan and laminin gene expression by various cytokines and growth factors, as it pertains to inflammation and wound healing.

To date, this internationally renowned leader has authored 436 original peer-reviewed publications, 191 review articles and textbook chapters, and 673 abstracts on presentations in national and international conferences. He serves also as Professor and Chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College, Co-Director of the Jefferson Center for International Dermatology, and Director of the Dermatology Residency Training Program at Thomas Jefferson University Hospital.

Selected Review Articles

• Uitto, J., Pulkkinen, L., and McLean, W.H.I.: Epidermolysis Bullosa: a Spectrum of Clinical Phenotypes Explained by Molecular Heterogeneity. Molec Med Today 3:457-465, 1997.
• Pulkkinen, L., and Uitto, J.: Hemidesmosomal Variants of Epidermolysis Bullosa. Mutations in the a6b4 Integrin and the 180-kD Bullous Pemphigoid Antigen/type XVII Collagen Genes. Exp Derm 7:46-64, 1998.
• Pulkkinen, L., and Uitto, J.: Mutation Analysis and Molecular Genetics of Epidermolysis Bullosa. Matrix Biol/18:29-42, 1999.