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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 28, 2019; 25(8): 1031-1036
Published online Feb 28, 2019. doi: 10.3748/wjg.v25.i8.1031
Published online Feb 28, 2019. doi: 10.3748/wjg.v25.i8.1031
Crohn’s-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report
Paul Girot, Catherine Le Berre, Astrid De Maissin, Caroline Trang-Poisson, Arnaud Bourreille, Institut des Maladies de l’Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, Nantes Cedex 44093, France
Marie Freyssinet, Department of Gastroenterology, Clinique Jules Verne, Nantes 44300, France
Author contributions: Girot P and Le Berre C contributed equally to this work; Girot P, Le Berre C and Bourreille A designed the research; Girot P, Le Berre C, De Maissin A, Freyssinet M, Trang-Poisson C and Bourreille A performed the research; Girot P, Le Berre C and Bourreille A wrote the paper; All authors have read and approved the final version to be published.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist - 2016.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Catherine Le Berre, MD, Doctor, Institut des Maladies de l’Appareil Digestif, Department of Gastroenterology and Digestive Oncology, Nantes University Hospital, 1 Place Alexis Ricordeau, Nantes Cedex 44093, France. catherine@leberre.org
Telephone: +33-240-083153 Fax: +33-240-083154
Received: December 12, 2018
Peer-review started: December 12, 2018
First decision: December 28, 2018
Revised: January 2, 2019
Accepted: January 14, 2019
Article in press: January 15, 2019
Published online: February 28, 2019
Processing time: 77 Days and 5.9 Hours
Peer-review started: December 12, 2018
First decision: December 28, 2018
Revised: January 2, 2019
Accepted: January 14, 2019
Article in press: January 15, 2019
Published online: February 28, 2019
Processing time: 77 Days and 5.9 Hours
Core Tip
Core tip: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications. HPS can be associated with Crohn’s disease (CD)-like gastrointestinal disorders. We present a case of acute severe colitis in an albino woman that led to the diagnosis of HPS. Following bleeding diathesis correction by platelet transfusion, the granulomatous colitis responded dramatically to medical treatment with corticosteroids, azathioprine and infliximab. The fact that this HPS-related granulomatous colitis responded to the same therapeutic approach used in CD suggests that this type of colitis may result from HPS patients’ genetic susceptibility to CD.