Yanofsky Russell, Stein Sarah L, Rubin David T, Kellar Amelia
Department of Medicine, Inflammatory Bowel Disease Center, University of Chicago, Chicago, IL.
Department of Medicine and Pediatrics, Section of Dermatology, University of Chicago, Chicago, IL.
ACG Case Rep J. 2025 Mar 29;12(4):e01647. doi: 10.14309/crj.0000000000001647. eCollection 2025 Apr.
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.
赫尔曼斯基-普德拉克综合征（HPS）是一种罕见的常染色体隐性疾病，其特征为溶酶体功能缺陷，可表现为类似克罗恩病（CD）的肉芽肿性小肠结肠炎。我们报告一名16岁的青少年男性，患有与HPS相关的CD和化脓性汗腺炎（HS），这是迄今为止文献中描述的少数几例同时患有CD和HS的HPS病例之一。英夫利昔单抗和甲氨蝶呤联合治疗使疾病稳定，突出了HPS相关CD和HS发病机制中可能存在的共同炎症途径。鉴于这种疾病组合的罕见性和难治性，我们的病例可能为其他患者提供有益的治疗策略。
