title: Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.
abstract: We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass opacity in the lungs, and a surgical lung biopsy revealed fibrotic NSIP. Foamy type 2 pneumocytes and the absence of dense granules in platelets were also observed, consistent with a diagnosis of HPS. Ultimately, a genetic analysis revealed a mutation in the HPS1 gene. The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia.
authors.affiliation: The Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Furuhashi
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Enomoto
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Fujisawa
authors.forename: Dai
authors.initials: D
authors.lastname: Hashimoto
authors.forename: Naoki
authors.initials: N
authors.lastname: Inui
authors.forename: Yutaro
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Takafumi
authors.initials: T
authors.lastname: Suda
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000209:etiology*; D008875:Middle Aged; D014057:Tomography, X-Ray Computed