Case Report: Hermansky–Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis
IntroductionHermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA), ocular nystagmus, bleeding diathesis and, in certain forms, pulmonary fibrosis (PF). We report a case of genetically conf…