Internal Medicine and Medical Investigation Journal

ISSN: 2474-7750

Pancreatic Involvement in Hermansky?Pudlak Syndrome- A Case Report


Author(s): Abid Nawaz1, Vinesh Kumar2, Nauman Shaukat1, Aslam Khan3, Bilal Awan, Safia Shaikh4, Aqsa Iqbal

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that

presents with oculocutaneous albinism, bleeding disorders, and immunodeficien-

cy. 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 complica-

tions. 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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