Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene

Intern Med. 2005 Jun;44(6):616-21. doi: 10.2169/internalmedicine.44.616.


A 57-year-old man with occulocutaneous albinism was admitted to our hospital because of exertional dyspnea and an abnormal shadow on chest roentgenogram. Chest CT revealed diffuse interstitial shadows with reticulonodular opacities in the bilateral whole lung fields and his pulmonary function test was consistent with a restrictive finding. Histologically, intraluminal diffuse fibrosis and interstitial fibrosis existed and ceroid-like materials within alveolar macrophages were demonstrated in a transbronchial lung biopsy specimen. In addition, because platelet dysfunction and ceroid-like materials within the reticuloendothelial cells of urine and bone marrow aspiration were recognized, we made a diagnosis of Hermansky-Pudlak syndrome (HPS). Gene analysis of the patient's peripheral blood cells did not reveal that he was a compound homogeneity for HPS1 gene mutations. Concerning treatment, although corticosteroid therapy was administered, his clinical symptoms and abnormal chest shadow have not changed.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Bronchoscopy
  • Diagnosis, Differential
  • Follow-Up Studies
  • Glucocorticoids / therapeutic use
  • Hermanski-Pudlak Syndrome / complications
  • Hermanski-Pudlak Syndrome / drug therapy
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases, Interstitial / complications*
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / drug therapy
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Radiography, Thoracic
  • Radionuclide Imaging
  • Tomography, X-Ray Computed


  • Glucocorticoids
  • HPS1 protein, human
  • Membrane Proteins