MAGI's LAB, Rovereto, Italy.
Section of Dermatology and Venereology, Department of Medicine, University of Verona, Verona, Italy.
Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493.
Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death.
During the progress of this review, we have implemented a targeted research approach, diligently choosing the most relevant and exemplary articles within the subject matter. Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the available sources.
Among genodermatoses, X-linked ones are of particular importance and should always be considered when pediatric males are affected. Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: keratinization defects, pigmentation defects, and inflammatory skin diseases. Typical examples are dyskeratosis congenita, keratosis follicularis spinulosa decalvans, hypohidrotic ectodermal dysplasia, chondrodysplasia punctata, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, chronic granulomatous disease, CHILD syndrome and ichthyosis. In this field, genetic diagnosis of the specific disease is important, also considering that numerous clinical trials of orphan drugs and genetic therapies are being proposed for these rare genetic diseases.
Thus, this chapter starts from clinical to molecular testing and ends with a review of all clinical trials on orphan drugs and gene therapy for genodermatoses.
先天性遗传皮肤病是一种罕见的、具有多种器官受累的异质性遗传皮肤疾病。它们严重影响个体的健康，也可能导致早逝。
在本次综述的进展过程中，我们采用了有针对性的研究方法，努力选择与主题最相关和最具代表性的文章。我们的方法包括系统地探索科学文献，以确保全面准确地汇集现有资源。
在先天性遗传皮肤病中，X 连锁疾病尤为重要，当儿科男性受到影响时，应始终考虑这些疾病。无论是否存在无皮肤症状的其他综合征形式，X 连锁先天性遗传皮肤病都可以分为三个主要类别：角化缺陷、色素沉着缺陷和炎症性皮肤病。典型的例子是先天性角化不良、滤泡性毛发角化病、少汗性外胚层发育不良、软骨发育不良点状、少汗性外胚层发育不良、色素失禁症、慢性肉芽肿病、CHILD 综合征和鱼鳞病。在这一领域，对特定疾病的遗传诊断很重要，因为许多针对这些罕见遗传疾病的孤儿药物和基因治疗临床试验正在提出。
因此，本章从临床到分子检测开始，最后综述了所有关于先天性遗传皮肤病的孤儿药物和基因治疗的临床试验。
