ArticleACG case reports journal2025
Hermansky-Pudlak Syndrome Complicated by Crohn's Disease and Hidradenitis Suppurativa: A Case of Multisystem Immune Dysregulation.
Article in ACG case reports journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder marked by defects in lysosomal function that can manifest with a granulomatous enterocolitis resembling Crohn's disease (CD). We present a 16-year-old adolescent boy with HPS-associated CD and hidradenitis suppurativa (HS), representing one of a few cases of HPS with concurrent CD and HS described in the literature to date. Disease stabilization on combined infliximab and methotrexate highlights potentially shared inflammatory pathways involved in the pathogenesis of HPS-associated CD and HS. Given the rarity and refractory nature of this disease constellation, our case may provide a beneficial treatment strategy for other patients.
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