ArticleWorld journal of gastroenterology2019
Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.
Article in World journal of gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Article
- Hermansky-Pudlak Syndrome Complicated by Crohn's Disease and Hidradenitis Suppurativa: A Case of Multisystem Immune Dysregulation.ACG case reports journal · 2025Article
- Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome-associated granulomatous colitis: a case report.Annals of coloproctology · 2024Article
- Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome.Internal medicine (Tokyo, Japan) · 2023Article
- Immune-mediated inflammatory diseases of the gastrointestinal tract: Beyond Crohn's disease and ulcerative colitis.JGH open : an open access journal of gastroenterology and hepatology · 2022Review
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.Journal of pediatric gastroenterology and nutrition · 2020Article
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Authors and funding
6 authors.
Funding
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Abstract
backgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency and systemic complications associated with ceroid deposition in the reticuloendothelial system. HPS types 1 and 4 are associated with Crohn's disease (CD)-like gastrointestinal disorders, such as granulomatous enterocolitis or perianal disease. Cases of colitis can be particularly severe and, before the use of anti-tumor necrosis factor alpha (TNFα) therapy had become common, were reported as showing poor responsiveness to medical treatment. CASE SUMMARY: We present the case of a 51-year-old albino woman who presented with acute severe colitis that led to the diagnosis of HPS. Histologic findings of biopsy samples showed chronic inflammation with deep ulcerations, and granulomas without caseous necrosis. Molecular genetic analysis confirmed HPS type 1, with a homozygous 27 base-pair deletion in exon 20 of the
conclusionWe report a case of severe colitis that led to the diagnosis of HPS, which was responsive to azathioprine and infliximab.
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