Hermansky-Pudlak syndrome (HPS), which was first described in 1959 and is named after its discoverers, is characterized by a rare form of albinism that is associated with low visual acuity, bruising and prolonged bleeding, lung fibrosis, and occasionally inflammatory bowel disease and reduced kidney function (National Institute of Child Health and Development [NICHD], 2002).
A rare form of albinism distinguished by impaired blood clotting and the accumulation of waxy substances in the lungs and intestines.