Case Report
Published November 12, 2019
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Keywords

Hermansky–Pudlak Syndrome
Pulmonary Fibrosis
Renal Complication
Pancreatic Atrophy

How to Cite

Nawaz, A., Kumar, V., Shaukat, N., Khan, A., Awan, B., Shaikh, S., & Iqbal, A. (2019). Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report. Internal Medicine and Medical Investigation Journal, 4(3). https://doi.org/10.24200/imminv.v4i3.232

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report

Abid Nawaz
Lady Reading Hospital, Peshawar, Khyber Pakhtunkhwa, 25000, Pakistan.
Vinesh Kumar
South City Hospital, Karachi, Sindh,75600 , Pakistan
Nauman Shaukat
Lady Reading Hospital, Peshawar, Khyber Pakhtunkhwa, 25000, Pakistan.
Aslam Khan
Bajwa Hospital, Lahore, Punjab, 54950, Pakistan.
Bilal Awan
Lady Reading Hospital, Peshawar, Khyber Pakhtunkhwa, 25000, Pakistan.
Safia Shaikh
SSM Health St Mary’s Hospital, St. Louis, MO, 63117, USA
Aqsa Iqbal
University of Illinois at Chicago, Chicago, Illinois, 60610, USA.

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. 

https://doi.org/10.24200/imminv.v4i3.232
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