title: 29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis.
abstract: A 29-year-old man with a history of oculocutaneous albinism presented to the ED complaining of progressive dyspnea on exertion. One month prior to admission, the patient had begun to experience worsening dyspnea provoked by routine household activities. Additionally, he had developed a nonproductive cough, exacerbated by cold weather. He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising. Born in Honduras, he had immigrated to the United States approximately 10 years prior to his presentation to our facility. Furthermore, there was no family history of albinism, bleeding disorders, or pulmonary disease.
authors.affiliation: Department of Medicine, Olive View Medical Center, University of California at Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, CA.
authors.forename: Golriz
authors.initials: G
authors.lastname: Asefi
authors.affiliation: Department of Medicine, Division of General Medicine, Section of Hospital Medicine, Columbia University Medical Center, New York, NY.
authors.forename: Arta
authors.initials: A
authors.lastname: Lahiji
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Olive View Medical Center, University of California at Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, CA. Electronic address: kamangar@ucla.edu.
authors.forename: Nader
authors.initials: N
authors.lastname: Kamangar
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000209:etiology*; D018450:Disease Progression; D004417:Dyspnea / Q000175:diagnosis / Q000209:etiology* / Q000534:rehabilitation; D004844:Epistaxis / Q000175:diagnosis / Q000209:etiology*; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D010100:Oxygen / Q000627:therapeutic use; D011658:Pulmonary Fibrosis / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D010100:Oxygen