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

Tatiana Kelil, Jeanne Shen, Ailbhe O'Neill, Stephanie Howard

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)59
Number of pages1
JournalJournal of Clinical Imaging Science
Volume4
Issue number1
DOIs
StatePublished - Jan 1 2014

Keywords

  • Hermansky-Pudlak syndrome
  • oculocutaneous hypopigmentation
  • platelet dysfunction
  • pulmonary fibrosis

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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