Department of Dermatology, Hospital Niño Jesus, Menendez Pelayo 65, Madrid, 28034, Spain.
Br J Dermatol. 2014 Nov;171(5):1227-9. doi: 10.1111/bjd.13118. Epub 2014 Oct 1.
Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.
现报道两例患者,其初发的远端丘疹,组织病理学诊断为基底细胞癌,为 Gorlin 综合征(GS)的首发表现。这些病变无进展且经随访保持稳定。在这两例患者中检测到了两种不同的 PTCH1 基因突变,因此无法对 GS 这一表现型与基因型进行相关性分析。