title: Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome.
abstract: A 30-year-old male smoker with congenital amblyopia and oculocutaneous albinism was admitted to our hospital complaining of progressive dyspnea on exertion. Chest computed tomography images revealed diffuse reticular opacities and honeycombing in the bilateral lower lobes with sparing of the subpleural region along with emphysema predominantly in the upper lobes. Lung biopsy specimens showed a mixture of usual interstitial pneumonia and a non-specific interstitial pneumonia pattern with emphysema. Of note, cuboidal epithelial cells with foamy cytoplasm on the alveolar walls and phagocytic macrophages with ceroid pigments in the fibrotic lesions were observed. The patient was diagnosed with Hermansky-Pudlak syndrome (HPS) associated with combined pulmonary fibrosis and emphysema (CPFE). Six years following the patient's initial admission to our hospital, he died from acute exacerbation (AE) of CPFE associated with HPS. This is one of only few reports available on the clinicopathological characteristics of AE in CPFE associated with HPS.
authors.affiliation: Department of Respiratory Medicine Toho University Omori Medical Center Tokyo Japan.
authors.forename: Keishi
authors.initials: K
authors.lastname: Sugino
authors.affiliation: Department of Respiratory Medicine Toho University Omori Medical Center Tokyo Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Gocho
authors.affiliation: Department of Respiratory Medicine Toho University Omori Medical Center Tokyo Japan.
authors.forename: Naoshi
authors.initials: N
authors.lastname: Kikuchi
authors.affiliation: Department of Diagnostic Pathology Toho University Omori Medical Center Tokyo Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Shibuya
authors.affiliation: Department of Pathology Labor Health and Welfare Organization Kanto Rosai Hospital Kanagawa Japan.
authors.forename: Toshimasa
authors.initials: T
authors.lastname: Uekusa
authors.affiliation: Department of Respiratory Medicine Toho University Omori Medical Center Tokyo Japan.
authors.forename: Sakae
authors.initials: S
authors.lastname: Homma
keywords: Acute exacerbation; Hermansky–Pudlak syndrome; combined pulmonary fibrosis and emphysema
references.citation: Pathol Int. 2004 May;54(5):322-31
references.pmid: 15086836
references.citation: Mol Genet Metab. 2011 Jun;103(2):128-34
references.pmid: 21420888
references.citation: Respiration. 2006;73(3):382-95
references.pmid: 16490934
references.citation: AJR Am J Roentgenol. 2002 Oct;179(4):887-92
references.pmid: 12239031
references.citation: Am J Respir Cell Mol Biol. 2007 Jul;37(1):67-74
references.pmid: 17363777