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Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. From Carden et al, Br J Ophthal, 1998, 9-195, with permission from BMJ Publishing Group.
These diseases present with a generalized complete or partial loss in pigmentation of the skin and the hair.
Mutations in genes that regulate the multistep process of melanin synthesis, distribution of pigment by the melanocyte, and/or melanosome biogenesis are the basis for these diseases.
Chediak-Higashi syndrome and Hermansky-Pudlak syndrome also manifest with extrapigmentary defects consisting of leukocyte, platelet, pneumocyte, and reticular cell dysfunction.
Griscelli syndrome can also manifest with immunodeficiency and neurologic defects.