Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
Dermatology Unit, IRCCS of Azienda Ospedaliero-Universitaria Policlinico Sant'Orsola Hospital, Bologna, Italy.
J Dermatol. 2021 Jul;48(7):1101-1105. doi: 10.1111/1346-8138.15892. Epub 2021 May 21.
Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant inherited disease caused by PTCH1 (9q22.3-q31) germline mutations. Skin manifestations are mainly characterized by hyperkeratosis of the palms and soles, palmoplantar pits and a strong predisposition to develop multiple basal cell carcinomas (BCCs). Recently, it has been hypothesized that basaloid follicular hamartomas (BFH) could be included in BCNS skin features. We present three pediatric cases of GS with BCCs and BFHs. Clinical, dermoscopic and immunohistochemical tools are reported.
基底细胞痣综合征（BCNS）是一种常染色体显性遗传性疾病，由 PTCH1（9q22.3-q31）种系突变引起。皮肤表现主要特征为手掌和足底过度角化、掌跖凹陷和多发性基底细胞癌（BCC）的强烈易感性。最近，有人假设基底样滤泡错构瘤（BFH）可能包含在 BCNS 的皮肤特征中。我们报告了三例具有 BCC 和 BFH 的 GS 儿科病例。报告了临床、皮肤镜和免疫组织化学工具。
