Hermansky–pudlak Syndrome: A Rare Cause of Progressive Interstitial Lung Disease in a Young Adult

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, bleeding diathesis, and systemic complications such as pulmonary fibrosis. We report a 33-year-old man with oculocutaneous albinism who presented with a three-month history of progressive exertional dyspnoea and dry cough. Clinical examination revealed horizontal nystagmus, cutaneous albinism, and actinic keratosis. Pulmonary evaluation demonstrated a restrictive pattern on spirometry, and high-resolution computed tomography revealed features suggestive of interstitial lung disease. Genetic testing supported the diagnosis of HPS. The patient was managed with long-term oxygen therapy and considered for antifibrotic therapy, alongside counselling for lung transplantation. This case highlights the need for early recognition of HPS-associated pulmonary fibrosis and timely referral for advanced respiratory interventions.