Great advances have been made in the field of heritable skin disorders using next-generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome sequencing, whole-transcriptome sequencing, and disease-targeted multigene panels). When NGS first became available, the cost and lack of access to these technologies were limiting factors; however, with decreasing sequencing costs and the expanding knowledge base of genetic skin diseases, fundamental awareness of NGS has become prudent. The heritable ichthyoses comprise a genotypically and phenotypically heterogeneous group of monogenic keratinization disorders characterized by persistent scaling, with at least 55 distinct genes currently implicated in causing nonsyndromic and syndromic forms of the disease. By providing a simplified overview of available NGS techniques and applying them in the context of ichthyosis, one of the most common genodermatoses, we hope to encourage dermatologists to offer, when appropriate, genetic testing earlier in patients with unsolved presentations. With the aid of NGS, dermatologists can provide diagnostic certainty in cases of suspected genodermatoses and offer potentially life-changing genome-guided and targeted therapies as they become available.

使用下一代测序（NGS）技术（即全基因组测序、全外显子组测序、全转录组测序和针对疾病的多基因组）在遗传性皮肤病领域取得了巨大进展。当 NGS 首次出现时，成本和无法获得这些技术是限制因素；然而，随着测序成本的降低和遗传性皮肤病知识库的扩大，人们对NGS的基本认识已变得谨慎。遗传性鱼鳞病包括一组基因型和表型异质性单基因角化病，其特征是持续鳞屑，目前至少有 55 个不同的基因与引起该疾病的非综合征型和综合征型有关。通过对可用的 NGS 技术进行简单概述，并将其应用于鱼鳞病（最常见的遗传性皮肤病之一），我们希望鼓励皮肤科医生在适当的情况下，尽早为尚未解决的症状患者提供基因检测。在NGS的帮助下，皮肤科医生可以对疑似基因皮肤病病例提供诊断确定性，并在可用时提供可能改变生活的基因组引导和靶向治疗。