Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications.
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.
Department of Imaging, Brigham and Women's Hospital, Boston, MA, USA.
Tatiana
T
Kelil
Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Jeanne
J
Shen
Department of Imaging, Dana Farber Cancer Institute, Boston, MA, USA.
Ailbhe C
AC
O'Neill
Department of Imaging, Brigham and Women's Hospital, Boston, MA, USA ; Department of Imaging, Dana Farber Cancer Institute, Boston, MA, USA.
Stephanie A
SA
Howard
Hermansky–Pudlak syndrome; oculocutaneous hypopigmentation; platelet dysfunction; pulmonary fibrosis