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Case Reports
. 2024 Oct 31;11(11):e01477.
doi: 10.14309/crj.0000000000001477. eCollection 2024 Nov.

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome

Hajar Koulali  1   2 , Samira Azzmouri  1   2 , Mariam Tajir  3 , Khawla Zerrouki  3 , Anass Haloui  4 , Ouiam Elmqaddem  1   2 , Abdelkrim Zazour  1   2 , Zahi Ismaili  1   2 , Ghizlane Kharrasse  1   2
Affiliations
Case Reports

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome

Hajar Koulali et al. ACG Case Rep J. .

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.

Keywords: Hermansky-Pudlak syndrome; colitis; granulomatous.

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Figures

Figure 1.
Figure 1.
Edematous and hypertrophic skin tags.
Figure 2.
Figure 2.
Sigmoidoscopy showing edema, erythema, and ulcerations.
Figure 3.
Figure 3.
High-power view of colonic mucosa from the patient. The chorion is the site of a granuloma consisting mainly of epithelioid cells (×40).
Figure 4.
Figure 4.
Low-power view showing the anal mucosa. The mucosa is covered by normal-looking squamous epithelium, with a moderate amount of inflammatory cells colonizing the lamina propria, as well as numerous granulomas consisting of epithelioid cells surrounded by a ring of lymphocytes and multiple giant cells (×4).
See this image and copyright information in PMC

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