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
Descripción
Sumario: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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