先天性角化不良并发症之推定巨细胞病毒性视网膜炎：病例报告
Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report.
作者信息
Du Yuxi, Dang Yalong
机构信息
Department of Ophthalmology, Sanmenxia Eye Hospital/Sanmenxia Central Hospital Affiliated to Henan University of Science and Technology, Sanmenxia, China.
Henan International Joint Laboratory of Outflow Engineering, Sanmenxia Central Hospital, School of Medicine, Henan University of Science and Technology, Sanmenxia, China.
出版信息
Case Rep Ophthalmol. 2024 Jul 24;15(1):572-576. doi: 10.1159/000540221. eCollection 2024 Jan-Dec.
INTRODUCTION
Dyskeratosis congenita is a rare genetic disorder characterized by abnormalities of the skin, nails, and oral mucosa. Retinal involvement in this condition is uncommon. Here, we present a case of a young male patient diagnosed with presumptive cytomegalovirus retinitis, ultimately found to be concomitant with dyskeratosis congenita.
CASE PRESENTATION
A non-HIV-infected young male with recurrent infections, including aspergillus pneumonia and pneumocystis pneumonia, presented with presumptive cytomegalovirus retinitis in both eyes. Systemic manifestations included cutaneous hyperpigmentation, nail dystrophy, and oral mucosal leukoplakia. Genetic testing revealed a mutation in the DKC1 gene. The final diagnosis was dyskeratosis congenita complicated by presumptive cytomegalovirus retinitis.
CONCLUSION
Cytomegalovirus retinitis can serve as an ocular complication of dyskeratosis congenita. When a patient presents with cytomegalovirus retinitis, a comprehensive systematic examination should be conducted as it indicates severe immunodeficiency.
引言
先天性角化不良是一种罕见的遗传性疾病，其特征为皮肤、指甲和口腔黏膜异常。视网膜受累在这种疾病中并不常见。在此，我们报告一例年轻男性患者，最初被诊断为疑似巨细胞病毒性视网膜炎，最终发现其合并先天性角化不良。
病例介绍
一名未感染HIV的年轻男性，反复发生感染，包括曲霉菌性肺炎和肺孢子菌肺炎，双眼出现疑似巨细胞病毒性视网膜炎。全身表现包括皮肤色素沉着、指甲营养不良和口腔黏膜白斑。基因检测显示DKC1基因存在突变。最终诊断为先天性角化不良合并疑似巨细胞病毒性视网膜炎。
结论
巨细胞病毒性视网膜炎可作为先天性角化不良的眼部并发症。当患者出现巨细胞病毒性视网膜炎时，应进行全面的系统检查，因为这表明存在严重免疫缺陷。
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