A Case of Hermansky–Pudlak Syndrome
Abstract
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There is no definitive treatment for this condition, with lung transplantation remaining the only curative option in advanced cases.
Fields of Study & Subjects
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Lysosomal Storage Disorders Research
Immunodeficiency and Autoimmune Disorders
Publication details
- Journal / source
- Journal of Association of Pulmonologist of Tamil Nadu
- Volume
- 9
- Issue
- 1
- Pages
- 28–29
- Publication date
- 1 January 2026
- Language
- EN