ABSTRACT
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder of organelle biogenesis, characterized by oculocutaneous albinism, platelet dysfunction, and lysosomal accumulation of ceroid lipofuscin in reticuloendothelial cells. The disorder was first described in 1959 by the Czechoslavakian physicians Hermansky and Pudlak.1
Clinical manifestations include a variable deficiency of skin and hair pigmentation, reduced visual acuity, congenital nystagmus, and a platelet related bleeding diathesis. As introduced in Chapter 12, pulmonary disease, which is highly penetrant in HPS, manifests as a restrictive disorder with interstitial infiltrates, and can progress to respiratory insufficiency and death by the fourth or fifth decade.2,3
