Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-rela...

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Detalles Bibliográficos
Autores principales: Kelil, Tatiana, Shen, Jeanne, O’Neill, Ailbhe C, Howard, Stephanie A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Radiologic-Pathologic Correlation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220421/
https://www.ncbi.nlm.nih.gov/pubmed/25379352
http://dx.doi.org/10.4103/2156-7514.143437
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author Kelil, Tatiana
Shen, Jeanne
O’Neill, Ailbhe C
Howard, Stephanie A
author_facet Kelil, Tatiana
Shen, Jeanne
O’Neill, Ailbhe C
Howard, Stephanie A
author_sort Kelil, Tatiana
collection PubMed
description Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis, highlighting the role of imaging in assessment of disease severity and prognosis.
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spelling pubmed-42204212014-11-06 Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications Kelil, Tatiana Shen, Jeanne O’Neill, Ailbhe C Howard, Stephanie A J Clin Imaging Sci Radiologic-Pathologic Correlation Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis, highlighting the role of imaging in assessment of disease severity and prognosis. Medknow Publications & Media Pvt Ltd 2014-10-27 /pmc/articles/PMC4220421/ /pubmed/25379352 http://dx.doi.org/10.4103/2156-7514.143437 Text en Copyright: © 2014 Kelil T. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Radiologic-Pathologic Correlation
Kelil, Tatiana
Shen, Jeanne
O’Neill, Ailbhe C
Howard, Stephanie A
Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title_full Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title_fullStr Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title_full_unstemmed Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title_short Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications
title_sort hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications
topic Radiologic-Pathologic Correlation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220421/
https://www.ncbi.nlm.nih.gov/pubmed/25379352
http://dx.doi.org/10.4103/2156-7514.143437
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