Hermansky pudlak syndrome type 2: A rare case report

Yogesh Chhaparwal, Mathangi Kumar, Shubha Chhaparwal

Research output: Contribution to journalComment/debate

Abstract

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.

Original languageEnglish
Pages (from-to)97-101
Number of pages5
JournalJournal of Krishna Institute of Medical Sciences University
Volume9
Issue number3
Publication statusPublished - 01-07-2020

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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