Metastatic basal cell carcinomas in Gorlin syndrome—A case series and literature review

IF 1.8 4区 医学 Q2 DERMATOLOGY Australasian Journal of Dermatology Pub Date : 2024-12-12 DOI:10.1111/ajd.14401
Usamah M. Afzal MD, Faisal R. Ali MD FRCP PhD, Deemesh Oudit FRCSEd, Roxana Totorean MD, Gareth Evans MD FRCP, John T. Lear FRCP PhD
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Abstract

Metastatic basal cell carcinomas (mBCCs) are exceedingly rare, with an estimated variable prevalence rate between 0.003 and 0.55% among all basal cell carcinomas. Although there are hundreds of reported cases of mBCCs, a dearth of evidence exists of mBCCs in patients with Gorlin syndrome—an autosomal dominant genetic disorder. The purpose of this article was to present the first and largest case series of patients with mBCC in Gorlin. A literature review (LR) compares our data with the existing evidence base to underscore the importance of early surveillance, diagnosis and surgical intervention of suspicious lesions as distant metastases significantly reduce survival rates.

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Gorlin综合征中的转移性基底细胞癌——病例系列及文献回顾。
转移性基底细胞癌(mbcc)非常罕见,在所有基底细胞癌中,估计可变患病率在0.003%至0.55%之间。尽管有数百例报道的mbcc病例,但缺乏证据表明mbcc存在于Gorlin综合征(一种常染色体显性遗传疾病)患者中。本文的目的是介绍Gorlin地区mBCC患者的第一个也是最大的病例系列。一篇文献综述(LR)将我们的数据与现有的证据基础进行了比较,强调了早期监测、诊断和手术干预可疑病变的重要性,因为远处转移会显著降低生存率。
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来源期刊
CiteScore
3.20
自引率
5.00%
发文量
186
审稿时长
6-12 weeks
期刊介绍: Australasian Journal of Dermatology is the official journal of the Australasian College of Dermatologists and the New Zealand Dermatological Society, publishing peer-reviewed, original research articles, reviews and case reports dealing with all aspects of clinical practice and research in dermatology. Clinical presentations, medical and physical therapies and investigations, including dermatopathology and mycology, are covered. Short articles may be published under the headings ‘Signs, Syndromes and Diagnoses’, ‘Dermatopathology Presentation’, ‘Vignettes in Contact Dermatology’, ‘Surgery Corner’ or ‘Letters to the Editor’.
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