TY - CHAP M1 - Book, Section TI - Albinism and Other Genetic Disorders of Pigmentation A1 - Hayashi, Masahiro A1 - Suzuki, Tamio A2 - Kang, Sewon A2 - Amagai, Masayuki A2 - Bruckner, Anna L. A2 - Enk, Alexander H. A2 - Margolis, David J. A2 - McMichael, Amy J. A2 - Orringer, Jeffrey S. PY - 2019 T2 - Fitzpatrick's Dermatology, 9e AB - Albinism is characterized by hypopigmentation of the skin, hair, and eyes, or of eyes only, in the affected individuals. There are 2 albinism subtypes are nonsyndromic albinism, with symptoms restricted to impaired melanin biosynthesis (hypopigmentation of skin and hair, and ocular changes such as reduced iris pigment, nystagmus, impaired visual acuity, and foveal hypoplasia), and syndromic albinism, such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome, with various nonpigmentary symptoms, including bleeding diathesis, lung fibrosis, and immunodeficiency. Other congenital disorders involving pigmentation include a wide range of disorders such as piebaldism, Waardenburg syndrome, and reticular pigmentary disorders including dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, and Dowling-Degos disease. This chapter discusses all of the disorders listed above. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1161324207 ER -