title: Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessively inherited disease with oculocutaneous albinism, hemorrhagic diathesis, and multisystemic deposition of ceroid lipofuscin. We report a case with all symptoms characteristic of HPS. The patient was a mentally retarded albino with mild bleeding diathesis, and her course was complicated by granulomatous colitis refractory to medical treatment and progressive, fatal pulmonary fibrosis.
authors.affiliation: Pulmonary Dept., Orebro Medical Center Hospital, Sweden.
authors.forename: H
authors.initials: H
authors.lastname: Sandberg-Gertzén
authors.forename: R
authors.initials: R
authors.lastname: Eid
authors.forename: G
authors.initials: G
authors.lastname: Järnerot
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000175:diagnosis*; D003093:Colitis, Ulcerative / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D011658:Pulmonary Fibrosis / Q000150:complications* / Q000175:diagnosis