Evidence map›Paper›PMID 40165941›Full record

ArticleACG case reports journal2025

Hermansky-Pudlak Syndrome Complicated by Crohn's Disease and Hidradenitis Suppurativa: A Case of Multisystem Immune Dysregulation.

Russell Yanofsky, Sarah L Stein, David T Rubin, Amelia Kellar

Abstract readCase Reports
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Russell YanofskyDepartment of Medicine, Inflammatory Bowel Disease Center, University of Chicago, Chicago, IL.
Sarah L SteinDepartment of Medicine and Pediatrics, Section of Dermatology, University of Chicago, Chicago, IL.
David T RubinDepartment of Medicine, Inflammatory Bowel Disease Center, University of Chicago, Chicago, IL.
Amelia KellarDepartment of Medicine, Inflammatory Bowel Disease Center, University of Chicago, Chicago, IL.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Crohn's diseaseHermansky-Pudlak syndromehidradenitis suppurativa

Identifiers

PMID40165941
PMCPMC11957655

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.