Giavedoni Priscila, Ririe Marnie, Carrera Cristina, Puig Susana, Malvehy Josep
Department of Dermatology, Hospital Clinic, 08012 Barcelona, Spain.
Acta Derm Venereol. 2017 Jun 9;97(6):720-723. doi: 10.2340/00015555-2639.
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.
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。