Abstract
This chapter reviews the clinical features and genetic bases of classic genodermatoses such as oculocutaneous albinism, piebaldism, and Waardenburg syndrome, with an emphasis on the understanding of their molecular pathophysiology. Other disorders of hypopigmentation with known genetic defects, such as Griscelli syndrome, are also briefly discussed, as is pigmentary mosaicism. The chapter is divided into three sections: oculocutaneous albinism, other inherited disorders characterized by diffuse pigmentary dilution, and inherited disorders characterized by circumscribed or linear hypopigmentation. © 2006 Humana Press Inc.
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Schaffer, J. V., & Bolognia, J. L. (2006). Disorders of hypopigmentation. In Principles of Molecular Medicine (pp. 1011–1023). Humana Press. https://doi.org/10.1007/978-1-59259-963-9_104
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