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

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY

ACG Case Reports Journal Pub Date : 2025-03-29 eCollection Date: 2025-04-01 DOI:10.14309/crj.0000000000001647

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

引用次数: 0

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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Hermansky-Pudlak综合征合并克罗恩病和化脓性汗腺炎：一例多系统免疫失调。

Hermansky-Pudlak综合征（HPS）是一种罕见的常染色体隐性遗传病，以溶酶体功能缺陷为特征，可表现为类似克罗恩病（CD）的肉芽肿性小肠结肠炎。我们报告了一位16岁的青春期男孩，患有HPS相关的CD和化脓性汗腺炎（HS），这是迄今为止文献中报道的少数HPS并发CD和HS的病例之一。英夫利昔单抗和甲氨蝶呤联合治疗的疾病稳定强调了hps相关CD和HS发病机制中潜在的共同炎症途径。鉴于这种疾病的罕见性和难治性，我们的病例可能为其他患者提供有益的治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACG Case Reports Journal GASTROENTEROLOGY & HEPATOLOGY-

自引率

14.30%

发文量

170

审稿时长

12 weeks

期刊介绍： ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.