Hermansky Pudlak Syndrome Type 2:A Rare Case Report

Hermansky Pudlak Syndrome Type 2:A Rare Case Report

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 dysfun...

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Bibliographic Details
Main Authors: Yogesh Chhaparwal, Mathangi Kumar, Shubha Chhaparwal
Format: Article
Language:English
Published: Krishna Institute of Medical Sciences University 2020-07-01
Series:Journal of Krishna Institute of Medical Sciences University
Subjects:
oculocutaneous albinism
hermansky pudlak syndrome
platelet disorder
Online Access:https://www.jkimsu.com/jkimsu-vol9no3/JKIMSU,%20Vol.%209,%20No.%203,%20July-September%202020%20Page%2097-101.pdf
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spelling doaj-10da4a9a0b984d9f846891821cee6f552020-11-25T03:41:09ZengKrishna Institute of Medical Sciences UniversityJournal of Krishna Institute of Medical Sciences University2231-42612231-42612020-07-01090397101Hermansky Pudlak Syndrome Type 2:A Rare Case ReportYogesh Chhaparwal 0Mathangi Kumar1Shubha Chhaparwal 2Department of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal, Manipal Academy of Higher Education, Manipal- 576104 (Karnataka), IndiaDepartment of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal, Manipal Academy of Higher Education, Manipal- 576104 (Karnataka), IndiaDepartment of Conservative Dentistry and Endodontics, Manipal College of Dental Sciences, Manipal, Manipal Academy of Higher Education, Manipal- 576104 (Karnataka), IndiaHermansky-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.https://www.jkimsu.com/jkimsu-vol9no3/JKIMSU,%20Vol.%209,%20No.%203,%20July-September%202020%20Page%2097-101.pdfoculocutaneous albinismhermansky pudlak syndromeplatelet disorder
collection DOAJ
language English
format Article
sources DOAJ
author Yogesh Chhaparwal
Mathangi Kumar
Shubha Chhaparwal
spellingShingle Yogesh Chhaparwal
Mathangi Kumar
Shubha Chhaparwal
Hermansky Pudlak Syndrome Type 2:A Rare Case Report
Journal of Krishna Institute of Medical Sciences University
oculocutaneous albinism
hermansky pudlak syndrome
platelet disorder
author_facet Yogesh Chhaparwal
Mathangi Kumar
Shubha Chhaparwal
author_sort Yogesh Chhaparwal
title Hermansky Pudlak Syndrome Type 2:A Rare Case Report
title_short Hermansky Pudlak Syndrome Type 2:A Rare Case Report
title_full Hermansky Pudlak Syndrome Type 2:A Rare Case Report
title_fullStr Hermansky Pudlak Syndrome Type 2:A Rare Case Report
title_full_unstemmed Hermansky Pudlak Syndrome Type 2:A Rare Case Report
title_sort hermansky pudlak syndrome type 2:a rare case report
publisher Krishna Institute of Medical Sciences University
series Journal of Krishna Institute of Medical Sciences University
issn 2231-4261
2231-4261
publishDate 2020-07-01
description 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.
topic oculocutaneous albinism
hermansky pudlak syndrome
platelet disorder
url https://www.jkimsu.com/jkimsu-vol9no3/JKIMSU,%20Vol.%209,%20No.%203,%20July-September%202020%20Page%2097-101.pdf
work_keys_str_mv AT yogeshchhaparwal hermanskypudlaksyndrometype2ararecasereport
AT mathangikumar hermanskypudlaksyndrometype2ararecasereport
AT shubhachhaparwal hermanskypudlaksyndrometype2ararecasereport
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