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 "year-old japanese woman" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • canavan disease
  • carcinoma of the gallbladder
  • dystrophic epidermolysis bullosa
  • kindler syndrome
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • systemic capillary leak syndrome
  • triple a syndrome

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