Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis.

伴有杂合 RTEL1 突变的先天性角化不良表现为纤维化过敏性肺炎。

• 发表时间: 2023
• 来源期刊: Respir Med Case Rep
• DOI: 10.1016/j.rmcr.2023.101810
• PMID: 36655009
• 文章类型: Case Reports
• 作者列表: Han J,Song JW

关键词: Dyskeratosis congenita; Fibrotic hypersensitivity pneumonitis; Interstitial lung disease; Liver cirrhosis; Telomeropathy

Abstract

Dyskeratosis congenita is a rare genetic disorder of telomere insufficiency characterized by a mucocutaneous triad of nail dystrophy, abnormal skin pigmentation, and mucosal leukoplakia. Early diagnosis is important for multidisciplinary approach to its complications including bone marrow failure, malignancy, interstitial lung disease, and liver disease which cause significant morbidity and mortality. We report a genetically confirmed case of dyskeratosis congenita who presented with fibrotic hypersensitivity pneumonitis, highlighting non-mucocutaneous features of dyskeratosis congenita and the need to consider genetic predisposition in a patient with interstitial lung disease and combined unusual manifestations.

摘要

先天性角化病是一种罕见的端粒功能不全的遗传性疾病，其特征是指甲营养不良的粘膜皮肤三联症。异常的皮肤色素沉着，粘膜白斑.早期诊断对于包括骨髓衰竭在内的并发症的多学科方法很重要。恶性肿瘤，间质性肺病,和肝脏疾病，导致显著的发病率和死亡率。我们报告了一例基因证实的先天性角化障碍病例，其表现为纤维化过敏性肺炎，强调先天性角化障碍的非粘膜皮肤特征，以及考虑间质性肺病和合并异常表现的患者的遗传易感性的必要性。