DOI: https://doi.org/10.36347/sjmcr.2025.v13i02.018

Pages: 295-298

Background: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder affecting lysosomal-related organelles, leading to variable clinical manifestations. HPS type 2 (HPS2) is exceptionally associated with pulmonary fibrosis. Case Presentation: We present a 25-year-old male with HPS2, exhibiting progressive dyspnea and interstitial lung disease. Clinical assessment revealed oculocutaneous albinism, digital clubbing, and thoracic deformities. High-resolution computed tomography (HRCT) demonstrated fibrosing interstitial lung disease with reticulations, septal thickening, and traction bronchiectasis. Genetic testing confirmed a deleterious AP3B1 mutation. The patient was managed with symptomatic treatment, vaccination updates, and consideration for antifibrotic therapy and lung transplantation. Conclusion: This case highlights the clinical complexity of HPS2 and its rare pulmonary manifestations, emphasizing the importance of multidisciplinary management.