Department of Dermatology

Professor: Tamio Suzuki, M.D., Ph.D.

Lecture:  Yoshiyuki Katagiri, M.D., Ph.D.

          Masakazu Kawaguchi, M.D., Ph. D.

Assistant Professor

         Ayumu Miura, M.D.

         Ichidai Murata, M.D.

         Makiko Sato, M.D.

         Junko Yoshizawa, M.D.

         Fumiko Monma, M.D.

         Mariko Toyono, M.D.

Research and Education

Our major research focuses on mutational and functional analysis of human genetic disorders of pigmentation such as oculocutaneous albinism (OCA), piebaldism, dyschromatosis symmetrica hereditaria. OCA is a group of autosomal recessive disorders characterized by reduced or absent biosynthesis of melanin in melanocytes of the skin, hair and eye. Lack of pigment in the skin results in severe photosensitivity and high risk of skin cancer, while lack of pigment in the eye results in photophobia, nystagmus and greatly decreased visual acuity. OCA is caused by mutations in the genes associated with melanin synthesis. So far, 16 genes have been reported to be involved in OCA. The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). We have investigated all of their gene mutations and pathogenesis. We actively promote international collaboration.
Several technical methodologies, including, electron microscopy, immunohistochemistry, in situ hybridization, molecular genetics and biochemistry can be mastered in our laboratory.