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.
Souheil El-Chemaly and Lisa R. Young (2016) Hermansky-Pudlak Syndrome. Clinics in Chest Medicine37(3):505. doi: 10.1016/j.ccm.2016.04.012
Satoshi Ideno, Eiki Hatori, Hiroyuki Seki and Hiroshi Morisaki (2015) Comment on an article written by Cornelia Bachmann et al.. Arch Gynecol Obstet292(6):1173. doi: 10.1007/s00404-015-3843-6
Mnahi Bin Saeedan, Shamayel Faheem Mohammed and Tan-Lucien H. Mohammed (2015) Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. Current Problems in Diagnostic Radiology44(4):383. doi: 10.1067/j.cpradiol.2015.01.003
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