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 "pneumonia" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • classical phenylketonuria
  • cohen syndrome
  • congenital diaphragmatic hernia
  • heparin-induced thrombocytopenia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • oculocutaneous albinism
  • omenn syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • severe combined immunodeficiency
  • triple a syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated