title: Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
abstract: Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid lipofuscin, which in some cases may cause granulomatous colitis and pulmonary fibrosis. Any of these complications could result in a shortened life span for patients with HPS. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. This report highlights the importance of typing HPS to counsel patients regarding disease prognosis.
authors.affiliation: School of Medicine, University of Minnesota, Minneapolis, Minnesota, USA.
authors.forename: Alexander L
authors.initials: AL
authors.lastname: Ringeisen
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: James G
authors.initials: JG
authors.lastname: White
authors.forename: Cheri
authors.initials: C
authors.lastname: Schoonveld
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
mesh_terms: D000369:Aged, 80 and over; D016115:Albinism, Oculocutaneous / Q000175:diagnosis; D002352:Carrier Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D006470:Hemorrhage / Q000175:diagnosis; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010981:Platelet Storage Pool Deficiency / Q000175:diagnosis; D011658:Pulmonary Fibrosis / Q000175:diagnosis; D014792:Visual Acuity
chemical_list: D002352:Carrier Proteins; C493900:HPS5 protein, human