Back
Publications

Articles tagged with Oculocutaneous albinism

  • Albinism

    Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes…

  • Cutaneous Freckling: Possible new Clinical Marker

    Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often…