Hermansky Pudlak Syndrome Type 2:A Rare Case Report.
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Date
2020-07
Journal Title
Journal ISSN
Volume Title
Publisher
Krishna Institute of Medical Sciences University
Abstract
Hermansky-Pudlak Syndrome (HPS) is a rareautosomal recessive disorder characterized byOculocutaneous Albinism (OCA), platelet disorder,and ceroid accumulation. It is common in North WestPuerto Rico region, and the incidence reported is1/500000. It is a rare genetic disorder with plateletdysfunction resulting in bleeding diathesis. Here wereport one such rare case of HPS type 2 in a 7-year-oldboy with difficulty in chewing.
Description
Keywords
oculocutaneous albinism, Hermansky Pudlak syndrome, platelet disorder
Citation
Chhaparwal Yogesh, Kumar Mathangi, Chhaparwal Shubha. Hermansky Pudlak Syndrome Type 2:A Rare Case Report.. Journal of Krishna Institute of Medical Sciences University. 2020 Jul; 9(3): 97-101