The Hermansky-Pudlak syndrome

Abstract

Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease. This report discusses the lung involvement often seen in this condition correlated with radiography, computed tomography, high-resolution computed tomography, and the underlying pathology, by means of two such afflicted siblings. The elder died of respiratory failure while awaiting lung transplantation. The younger sibling is currently undergoing evaluation for transplantation.