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Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome
Publication type: Journal Article
Publication date: 2021-09-01
Pathology and Forensic Medicine
Abstract
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1, HPS3, and HPS4. Clinical manifestations include oculocutaneous albinism, nystagmus, platelet dysfunction, progressive pulmonary fibrosis, and granulomatous colitis. We present a case of a 28-year-old woman of Puerto Rican descent who required post-partum lung transplantation due to an inherited HPS1 mutation. The pathologies observed in HPS underline the mechanistic importance of LROS in a variety of tissue types and organ systems.
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Difranza L. T. et al. Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome // Human Pathology: Case Reports. 2021. Vol. 25. p. 200535.
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Difranza L. T., Chen D., MARBOE C., Rai A. J. Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome // Human Pathology: Case Reports. 2021. Vol. 25. p. 200535.
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TY - JOUR
DO - 10.1016/j.ehpc.2021.200535
UR - https://doi.org/10.1016/j.ehpc.2021.200535
TI - Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome
T2 - Human Pathology: Case Reports
AU - Difranza, Lanny T
AU - Chen, Dong
AU - MARBOE, CHARLES
AU - Rai, Alex J.
PY - 2021
DA - 2021/09/01
PB - Elsevier
SP - 200535
VL - 25
SN - 2214-3300
ER -
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@article{2021_Difranza,
author = {Lanny T Difranza and Dong Chen and CHARLES MARBOE and Alex J. Rai},
title = {Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome},
journal = {Human Pathology: Case Reports},
year = {2021},
volume = {25},
publisher = {Elsevier},
month = {sep},
url = {https://doi.org/10.1016/j.ehpc.2021.200535},
pages = {200535},
doi = {10.1016/j.ehpc.2021.200535}
}