Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. Pulmonary involvement usually begins during the third or fourth decades of life, with fibrosis being the most common cause of death. We present imaging and histopathologic findings of a 16-year-old Saudi adolescent girl with HPS-related pulmonary fibrosis, emphasizing on the role of imaging in assessment of disease severity and prognosis.