A Rare Case of Hermansky-Pudlak Syndrome Type 3

Hermansky-Pudlak syndrome (HPS) is a multi-system disorder characterized by oculocutaneous albinism and platelet storage deficiency, which can also lead to prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. Lysosome-related organelle dysfunction is responsible for many of the systemi...

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Detalles Bibliográficos
Autores principales: Alcid, Joel, Kim, Jeffrey, Bruni, David, Lawrence, Ibiyonu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155870/
https://www.ncbi.nlm.nih.gov/pubmed/32300417
http://dx.doi.org/10.14740/jh387w
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author Alcid, Joel
Kim, Jeffrey
Bruni, David
Lawrence, Ibiyonu
author_facet Alcid, Joel
Kim, Jeffrey
Bruni, David
Lawrence, Ibiyonu
author_sort Alcid, Joel
collection PubMed
description Hermansky-Pudlak syndrome (HPS) is a multi-system disorder characterized by oculocutaneous albinism and platelet storage deficiency, which can also lead to prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. Lysosome-related organelle dysfunction is responsible for many of the systemic manifestations, including dense body and melanosome deficiency. This report aims to review a case of HPS type 3 in a male Puerto Rican patient who presented to our clinic.
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spelling pubmed-71558702020-04-16 A Rare Case of Hermansky-Pudlak Syndrome Type 3 Alcid, Joel Kim, Jeffrey Bruni, David Lawrence, Ibiyonu J Hematol Case Report Hermansky-Pudlak syndrome (HPS) is a multi-system disorder characterized by oculocutaneous albinism and platelet storage deficiency, which can also lead to prolonged bleeding, pulmonary fibrosis, and granulomatous colitis. Lysosome-related organelle dysfunction is responsible for many of the systemic manifestations, including dense body and melanosome deficiency. This report aims to review a case of HPS type 3 in a male Puerto Rican patient who presented to our clinic. Elmer Press 2018-05 2018-05-10 /pmc/articles/PMC7155870/ /pubmed/32300417 http://dx.doi.org/10.14740/jh387w Text en Copyright 2018, Alcid et al. http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Alcid, Joel
Kim, Jeffrey
Bruni, David
Lawrence, Ibiyonu
A Rare Case of Hermansky-Pudlak Syndrome Type 3
title A Rare Case of Hermansky-Pudlak Syndrome Type 3
title_full A Rare Case of Hermansky-Pudlak Syndrome Type 3
title_fullStr A Rare Case of Hermansky-Pudlak Syndrome Type 3
title_full_unstemmed A Rare Case of Hermansky-Pudlak Syndrome Type 3
title_short A Rare Case of Hermansky-Pudlak Syndrome Type 3
title_sort rare case of hermansky-pudlak syndrome type 3
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155870/
https://www.ncbi.nlm.nih.gov/pubmed/32300417
http://dx.doi.org/10.14740/jh387w
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