Journal of Krishna Institute of Medical Sciences University (Jul 2020)

Hermansky Pudlak Syndrome Type 2:A Rare Case Report

  • Yogesh Chhaparwal ,
  • Mathangi Kumar,
  • Shubha Chhaparwal

Journal volume & issue
Vol. 09, no. 03
pp. 97 – 101


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Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000. It is a rare genetic disorder with platelet dysfunction resulting in bleeding diathesis. Here we report one such rare case of HPS type 2 in a 7-year-old boy with difficulty in chewing.