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Radiologic-Pathologic correlation


Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications.

Tatiana KelilJeanne ShenAilbhe C O'NeillStephanie A Howard
Departments of Imaging and Pathology, Brigham and Women’s Hospital, Department of Imaging, Dana Farber Cancer Institute, Boston, MA, USA
Date of Submission: 17-Jun-2014, Date of Acceptance: 08-Sep-2014, Date of Web Publication: 27-Oct-2014.
Corresponding Author:
Corresponding Author

Tatiana Kelil

75 Francis Street, Boston, MA 02115, USA.
E-mail: Tkelil@partners.org

Corresponding Author:
Corresponding Author

Tatiana Kelil

75 Francis Street, Boston, MA 02115, USA.
E-mail: Tkelil@partners.org

DOI: 10.4103/2156-7514.143437 Facebook Twitter Google Linkedin

ABSTRACT


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.
Keywords: Hermansky–Pudlak Syndrome, Oculocutaneous Hypopigmentation, Platelet Dysfunction, Pulmonary Fibrosis

Cited in 3 Documents

  1. Souheil El-Chemaly and Lisa R. Young (2016) Hermansky-Pudlak Syndrome. Clinics in Chest Medicine 37(3):505. doi: 10.1016/j.ccm.2016.04.012
  2. Satoshi Ideno, Eiki Hatori, Hiroyuki Seki and Hiroshi Morisaki (2015) Comment on an article written by Cornelia Bachmann et al.. Arch Gynecol Obstet 292(6):1173. doi: 10.1007/s00404-015-3843-6
  3. 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 Radiology 44(4):383. doi: 10.1067/j.cpradiol.2015.01.003

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