Philadelphia University + Thomas Jefferson University
Sidney Kimmel Medical College
Department of Dermatology & Cutaneous Biology

Uitto, Jouni

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Jouni Uitto, MD, PhD

Contact Dr. Uitto

Bluemle Life Sciences Building, Room 450
233 South Tenth Street
Philadelphia, PA 19107

(215) 503-5785

Medical School

MD, University of Helsinki - 1970
PhD, Biochemistry - 1970

Residency

Washington University School of Medicine, MO

Fellowship

Hospital of University of Pennsylvania (HUP)

Board Certification

Dermatology

Hospital Appointment

Thomas Jefferson University Hospital

Expertise and Research Interests

Jouni Uitto, MD, PhD, has been professor of dermatology and cutaneous biology, and biochemistry and molecular biology, and chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College, in Philadelphia, Pennsylvania, since 1986. He is also Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University. He received his MD and PhD degrees from the University of Helsinki, Finland, and completed his residency training in dermatology at Washington University College of Medicine, St. Louis, Missouri.

Dr Uitto is internationally recognized for his research on connective tissue biochemistry and molecular biology in relation to cutaneous diseases and skin aging. Dr Uitto's publications include 610 original articles in peer-reviewed journals, 285 textbook chapters and review articles, and 907 abstracts on presentations at national and international meetings.

Dr Uitto has been the recipient of numerous national and international awards, including a Research Career Development Award from the National Institutes of Health, the Distinguished Service Award from the Dystrophic Epidermolysis Bullosa Research Association of America, the William Montagna Lectureship Award from the Society for Investigative Dermatology, the Hermann Pinkus as well as Elson B. Helwig Memorial Lectureship Awards from the American Society of Dermatopathology, the Earl of Litchfield Lectureship Award of Oxford University, The Dohi Memorial Lectureship Award from the Japanese Dermatological Society, and the Kung-Sun Oh Memorial Lectureship from Yonsei University, Seoul, Korea. In 1993, he was selected as the recipient of the Marion B. Sulzberger Memorial Award and Lectureship and was designated as the "Professor of the Year" by the American Academy of Dermatology. Dr Uitto has been awarded the prestigious Matti Äyräpää Lectureship, the highest physician-scientist award in his native country, Finland. In 1996, Dr Uitto was appointed as Anglo-American Visiting Professor of the Royal Society of Medicine, London, United Kingdom. Most recently, he was the recipient of the first SID Kligman/Frost Leadership Award presented at IID, Kyoto, Japan. He has received an Honorary Doctorate in Medicine from the University of Kuopio, the University of Oulu, and the University of Turku, Finland, as well as the Honorary Professor title from China Medical University, and Honorary Visiting Professor from the University of Helsinki.

Dr. Uitto has held office in several scientific and professional societies, including President of the Society for Investigative Dermatology, President and Chairman of the Board of Trustees, the Dermatology Foundation, Member and Chair of the General Medicine A Study Section, Board of Scientific Counselors, National Cancer Institute, and National Advisory Council, National Institute for Arthritis and Musculoskeletal and Skin Diseases, all at National Institutes of Health. Dr Uitto is also section editor of the Journal of Investigative Dermatology and is on the editorial boards of numerous peer-reviewed journals.

Publications

Most Recent Peer-Reviewed Publications

  1. Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis
  2. Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment
  3. Precision Medicine for Heritable Skin Diseases—The Paradigm of Epidermolysis Bullosa
  4. Zebrafish Models of Ectopic Mineralization—The Paradigm of Pseudoxanthoma Elasticum
  5. Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone
  6. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa
  7. Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
  8. First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru
  9. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A
  10. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-)
  11. Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico
  12. Epidermodysplasia verruciformis: Inborn errors of immunity to human beta-papillomaviruses
  13. The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: A case series
  14. The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa
  15. EB2017—Progress in Epidermolysis Bullosa Research toward Treatment and Cure
  16. Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?
  17. Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects
  18. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
  19. Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders
  20. Pseudoxanthoma elasticum: Dermoscopy and mutation analysis