Rare Diseases Symptoms Automatic Extraction

Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.

[oculocutaneous albinism]

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.

Diseases presenting "high resolution" symptom

  • acute rheumatic fever
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • cadasil
  • congenital toxoplasmosis
  • cystinuria
  • lymphangioleiomyomatosis
  • monosomy 21
  • oculocutaneous albinism

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