Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome. On rare instances, HPS can involve the heart and lungs. This report discusses a 32-year-old man who presented with oculocutaneous albinism and immunodeficiency along with renal, pulmonary, and pancreatic complications. Pancreatic atrophy is a unique finding in our patient, which has not been reported in the literature. The purpose of our case report is to bring into light unusual complications of HPS so that timely action could be taken to avoid the progression of complications.
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