Hermansky-Pudlak syndrome

Abstract

Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide. The worldwide prevalence is close to 1 in 500,000 to 1,000,000 in non-Puerto Rican individuals.