Pharm D Intern, Department of Pharmacy Practice, JSS College of Pharmacy, JSS Academy of Higher Education & Research, Ooty, Nilgiris, Tamil Nadu, India.
Case Study
Magna Scientia Advanced Biology and Pharmacy, 2021, 01(02), 032-034
Article DOI: 10.30574/msabp.2021.1.2.0006
Received on 15 January 2021; revised on 23 January 2021; accepted on 25 January 2021
Albinism is a hereditary disorder that causes decreased pigmentation (coloring) in the body. As a consequence, albinism individuals are mostly fair-skinned with light hair known as oculocutaneous albinism. Skin, hair and color of the eye may vary, however, as some people with albinism may have dark brown hair and green or hazel / blue eyes. In both cases, poor vision and varying degrees of nystagmus (uncontrolled side-to-side eye movements) are observed. Everyone with HPS has albinism but not all people with albinism have HPS. We recorded a case with multiple comorbidities of a 37-year-old female patient with Hermansky-Pudlak syndrome (HPS) here
Oculocutaneous albinism; Melanocytes; Torsional nystagmus; Pigmentation
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Dinesh Kumar M, Akshitha Rani Siby and Khayati Moudgil. A rare case of Hermansky-Pudlak Syndrome with bruise and mellitus diabetes. Magna Scientia Advanced Biology and Pharmacy, 2021, 1(2), 032-034. Article DOI: https://doi.org/10.30574/msabp.2021.1.2.0006