[Albinism, thrombopathy, ceroid storage disease--Hermansky-Pudlak syndrome. Overview and description with immunodeficiency].

Abstract

The Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessively inherited triad of oculocutaneous albinism hemorrhagic diathesis and accumulation of ceroid in tissues. This article comprising the published reports of 232 patients is extended by the personal observation of a 7-year-old boy with HPS and immune deficiency due to a reduced activity of "natural killer" cells. In most cases the syndrome belongs to a form of tyrosinase-positive albinism with great clinical variability. The prolonged bleeding time is due to the lack of storage organelles (dense bodies) in thrombocytes. The most frequent complication of ceroid storage is fibrotic, restrictive lung disease. So far no curative therapy exists; the nature of the defect is still unknown.