Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.

Abstract

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.

• Authors: Kazuki Furuhashi, Noriyuki Enomoto, Tomoyuki Fujisawa, Dai Hashimoto, Naoki Inui, Yutaro Nakamura, Takafumi Suda
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 53 Issue 5 Pg. 449-53 ( 2014) ISSN: 1349-7235 [Electronic] Japan
• PMID: 24583434 (Publication Type: Case Reports, Journal Article)

Topics

• Biopsy
• Diagnosis, Differential
• Fatal Outcome
• Female
• Hermanski-Pudlak Syndrome (complications, diagnosis)
• Humans
• Lung Diseases, Interstitial (diagnosis, etiology)
• Middle Aged
• Tomography, X-Ray Computed