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

Tatiana Kelil; Jeanne Shen; Ailbhe C O'Neill; Stephanie A Howard

doi:10.4103/2156-7514.143437

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

J Clin Imaging Sci. 2014 Oct 27:4:59. doi: 10.4103/2156-7514.143437. eCollection 2014.

Authors

Tatiana Kelil¹, Jeanne Shen², Ailbhe C O'Neill³, Stephanie A Howard⁴

Affiliations

¹ Department of Imaging, Brigham and Women's Hospital, Boston, MA, USA.
² Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
³ Department of Imaging, Dana Farber Cancer Institute, Boston, MA, USA.
⁴ Department of Imaging, Brigham and Women's Hospital, Boston, MA, USA ; Department of Imaging, Dana Farber Cancer Institute, Boston, MA, USA.

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.