Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

Marina Guinda Ribeiro; Gabriella Lucato Zunta; Jéssica Silva Santos; Aparecida Machado Moraes; Carmen Silvia Passos Lima; Manoela Marques Ortega

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Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

机译：在巴西诊断为高龄的患者中与色皮干燥有关的临床特征

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Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.

机译：色素干燥皮肤病是一种罕见的常染色体隐性遗传疾病，其特征是由于太阳辐射和切除修复DNA的缺乏而具有极高的敏感性。这些因素促进了一系列皮肤异常，例如角化病，色素沉着过度，暴露在阳光下的区域的肿瘤以及眼部疾病，最终导致神经系统疾病。在本综述中，我们总结了一名45岁才被确诊的男性与色皮病有关的主要临床特征。

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《The Application of Clinical Genetics》 |2018年第2011期|共4页
作者
Marina Guinda Ribeiro; Gabriella Lucato Zunta; Jéssica Silva Santos; Aparecida Machado Moraes; Carmen Silvia Passos Lima; Manoela Marques Ortega;
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中图分类人类遗传学;
关键词
xeroderma pigmentosumDNA repair-deficiency disordersultraviolet rays;

机译：皮肤干燥性色素变性DNA修复缺乏症紫外线;

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1. Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome [J] . Therina Theron, Maria I. Fousteri, Marcel Volker, Molecular and Cellular Biology . 2005,第18期

机译：干燥皮肤色素沉着症和Cockayne综合征患者特征性干燥皮肤色素沉着病D组细胞的转录相关断裂
2. Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum [J] . Kohji Okamura, Masashi Toyoda, Kenichiro Hata, Genomics Data . 2015,第2期

机译：成纤维细胞及其iPS细胞系的全外显子测序，来源于一名患有色素性干皮病的患者
3. Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum [J] . Kohji Okamura, Masashi Toyoda, Kenichiro Hata, Genomics Data . 2015,第1期

机译：成纤维细胞及其iPS细胞系的全外显子测序，来源于一名患有色素性干皮病的患者
4. Autoscope - Automated Otoscopy Image Analysis to Diagnose Ear Pathology: Use of Clinically Motivated Eardrum Features [C] . Caglar Senaras, Aaron C. Moberly, Theodoros Teknos, Conference on Computer-Aided Diagnosis . 2017

机译：Autoscope-自动耳镜图像分析以诊断耳部病变：使用临床上有动力的皮音特征
5. Effect of Patient Activation on Patient Health Outcomes: An Assessment of the Relationship between an Advanced Care Management Program Using Coaching for Activation and Clinical, Utilization, and Risk for Admission Outcomes [D] . Ginnetti, Richard M. 2020

机译：患者激活对患者健康结果的影响：使用辅导激活和临床，利用以及入学成果风险的高级护理管理计划关系的评估
6. Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age [O] . Marina Guinda Ribeiro, Gabriella Lucato Zunta, Jéssica Silva Santos, 2018

机译：在巴西诊断为高龄的患者中与色皮干燥有关的临床特征
7. Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome [O] . Theron, Therina, Fousteri, Maria I., Volker, Marcel, 2005

机译：干燥皮肤色素沉着症和Cockayne综合征患者特征性干燥皮肤色素沉着病D组细胞的转录相关断裂

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

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