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.
- Hermansky-Pudlak syndrome
- oculocutaneous hypopigmentation
- platelet dysfunction
- pulmonary fibrosis
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging