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与李-佛美尼综合征和非典型痣综合征相关的家族性黑色素瘤:全身数码摄影、皮肤镜检查和共聚焦显微镜检查

Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy.

作者信息

Giavedoni Priscila, Ririe Marnie, Carrera Cristina, Puig Susana, Malvehy Josep

机构信息

Department of Dermatology, Hospital Clinic, 08012 Barcelona, Spain.

出版信息

Acta Derm Venereol. 2017 Jun 9;97(6):720-723. doi: 10.2340/00015555-2639.

Abstract

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and atypical mole syndrome. Two 28-year-old identical twin sisters with LFS and atypical moles were monitored by physical examination, total-body digital photography and dermoscopy be-tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2. Excisions were performed during the evaluation period of 1 in-situ melanoma and 3 basal cell carcinomas in case 1, and 1 in-situ melanoma and 1 early invasive melanoma in case 2. The remaining melanocytic lesions in both patients were stable during follow-up. The 3 melanomas were new atypical lesions detected with total-body photography and dermoscopy. In conclusion, monitoring LFS patients with total-body photography and dermoscopy may be useful to detect early melanoma.

摘要

李-弗劳梅尼综合征(LFS)是一种由p53基因突变引起的罕见常染色体显性疾病。黑色素瘤被认为是LFS中一种罕见且存在争议的组成部分。本研究的目的是描述对LFS和非典型痣综合征患者进行黑色素瘤系统筛查的效用。在2006年至2014年期间,对两名患有LFS和非典型痣的28岁同卵双胞胎姐妹进行了体格检查、全身数码摄影和皮肤镜检查监测。病例1共发现117处主要为深褐色的网状痣,病例2发现105处。在病例1的评估期内切除了1例原位黑色素瘤和3例基底细胞癌,病例2切除了1例原位黑色素瘤和1例早期浸润性黑色素瘤。两名患者其余的黑素细胞病变在随访期间均保持稳定。这3例黑色素瘤是通过全身摄影和皮肤镜检查发现的新的非典型病变。总之,对LFS患者进行全身摄影和皮肤镜检查监测可能有助于早期发现黑色素瘤。

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