Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome

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 o...

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Bibliographic Details
Published in:Human pathology : case reports 2021-09, Vol.25, p.200535, Article 200535
Main Authors: DiFranza, Lanny T., Chen, Dong, Marboe, Charles C., Rai, Alex J.
Format: Article
Language:English
Subjects:
dense platelet granules
Hermansky-Pudlak syndrome
lysosome related organelles
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Summary: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.
ISSN:2214-3300
2214-3300
DOI:10.1016/j.ehpc.2021.200535