Related Experiment Video
Updated: Jun 2, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome
Aydın Ciledağ1, Burcu Cirit Koçer, Nurdan Köktürk
1Department of Chest Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey. aciledag@yahoo.com
Abstract:
Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits. Pulmonary fibrosis may also accompany with the disease. A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. Although pirfenidone therapy was planned, clinical deteroriation developed and patient died because of respiratory failure. In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.
Related Concept Videos
Other Pulmonary Disorders
Pneumonia I: Introduction
Pneumonia I: Introduction
Risk Factors
Various factors influence the likelihood of developing pneumonia. Age plays a crucial role, with infants, children under two, and individuals over 65 at increased risk due to their...
Atypical Pneumonia
Pulmonary Hypertension: Classification and Pathogenesis
There are various classifications for PH, each relating to different underlying causes and also...
Chronic Obstructive Pulmonary Disease I: Introduction

