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一名非裔美国人患着色性干皮病。

Xeroderma pigmentosum in an African-American.

作者信息

Orosco Ryan K, Wang Timothy, Byrne Patrick J

机构信息

Department of Otolaryngology-Head and Neck Surgery Johns Hopkins Hospital, Baltimore, MD, USA.

出版信息

ORL J Otorhinolaryngol Relat Spec. 2011;73(3):162-5. doi: 10.1159/000328343. Epub 2011 May 11.

Abstract

AIMS

To describe a case of xeroderma pigmentosum (XP) in a middle-aged African-American woman, and to review pertinent literature on this rare clinical scenario.

METHODS

Case report and English literature review related to XP in black patients.

RESULTS

A 34-year-old African-American woman diagnosed with XP with first cutaneous squamous cell carcinoma (SCC) at age 23 years progressed to develop additional SCC, basal cell carcinomas, and melanoma in situ. She was treated with sun avoidance and protection and required multiple excisions.

CONCLUSIONS

We report a case of XP with a rare presentation in an African-American with onset of cutaneous neoplasm in her third decade. Severe photosensitivity and common malignancy seen in XP patients necessitate frequent surveillance with a low threshold for intervention. This case highlights the ability of XP to present in this demographic with a diverse spectrum of malignancies, and a potentially prolonged clinical course.

摘要

目的

描述一名中年非裔美国女性的着色性干皮病(XP)病例,并回顾关于这一罕见临床情况的相关文献。

方法

病例报告及关于黑人患者中XP的英文文献综述。

结果

一名34岁的非裔美国女性在23岁时被诊断为XP,首次出现皮肤鳞状细胞癌(SCC),随后又进展为出现更多的SCC、基底细胞癌和原位黑色素瘤。她通过避免日晒和采取防护措施进行治疗,并且需要多次切除手术。

结论

我们报告了一例在非裔美国人中罕见表现的XP病例,其在第三个十年出现皮肤肿瘤。XP患者中所见的严重光敏性和常见恶性肿瘤需要频繁监测且干预阈值较低。该病例突出了XP在这一人群中出现多种恶性肿瘤以及可能延长的临床病程的情况。

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