THE MERCK MANUAL: The Merck Manual of Diagnosis and Therapymultimedia

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  • Albinism
  • Albinism (Cutaneous Findings)

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    Albinism (Cutaneous Findings)

    Oculocutaneous albinism is an inherited defect in melanin production that causes diffuse hypopigmentation of skin, hair, and eyes. Melanin deficiency may be partial, as in this image, or total. This girl has a form of albinism known as Hermansky-Pudlak syndrome, characterized by melanin deficiency, platelet abnormalities, and ceroid-lipofuscin lysosomal storage disease.

    Image courtesy of Noah S. Scheinfeld, MD, and the Dermatology Online Journal.

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