模仿早发型克罗恩病伴皮肤表现的慢性肉芽肿病
Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations.
作者信息
Barbato Maria, Ragusa Giovanni, Civitelli Fortunata, Marcheggiano Adriana, Di Nardo Giovanni, Iacobini Metello, Melengu Taulant, Cucchiara Salvatore, Duse Marzia
机构信息
Pediatric Immunology Unit, Sapienza University of Rome, Viale Regina Elena, 324-00161 Rome, Italy.
出版信息
BMC Pediatr. 2014 Jun 20;14:156. doi: 10.1186/1471-2431-14-156.
BACKGROUND
Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered.
CASE PRESENTATION
We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn's disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed.
CONCLUSION
This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.
背景
慢性肉芽肿病是一种罕见的先天性免疫系统遗传性疾病。对于有反复或持续性感染临床病史的患者，尤其是由不常见菌种引起的感染，应考虑慢性肉芽肿病。
病例报告
我们报告一例5岁男孩，初步诊断为克罗恩病伴肠外表现。从皮肤溃疡培养物中分离出粘质沙雷菌后，怀疑该病例患有慢性肉芽肿病。组织学检查证实有肉芽肿，从而诊断为慢性肉芽肿病。
结论
该病例强调了对于疑似炎症性肠病和机会性感染患者，尤其是在早年发病时，高度怀疑免疫缺陷替代诊断的重要性。
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