Hermansky-Pudlak syndrome (HPS) is a diverse autosomal recessive disorder manifest by oculocutaneous albinism, bleeding, and lysosomal ceroid storage due to defective function of melanosomes, platelet-dense granules, and lysosomes. Excess ceroid storage results in pulmonary fibrosis and granulomatous colitis. The genes involved have been mapped to 11p15-p13, 5q14.1, 3q24, 10q24.32, 10q23.1, 6p22.3, 3q24, 22q11.2-q12.2 and 19q13, with in total 8 subtypes. Its highest incidence is in northwest Puerto Rico, where its frequency is 1 in 1800. Vitamin E and vasopressin have been tried. Pirfenidone does not work.
- ↑ Ciledağ A, Cirit Koçer B, Köktürk N, Kaya A, Celik G, Numanoğlu N. A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome. Tüberküloz ve toraks. 2011 Mar; 59(1):85-8.
- ↑ O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Molecular genetics and metabolism. 2011 Mar 18.(Epub ahead of print) (Link to article – subscription may be required.)