Hernández-Martín Angela
Unidad de Dermatología, Hospital General Yagüe, Avda. Cid 96, 09005 Burgos, Spain.
Actas Dermosifiliogr. 2005 May;96(4):203-16. doi: 10.1016/s0001-7310(05)73072-6.
In recent years, the genes responsible for many hereditary skin diseases have been discovered. These genes encode different proteins that participate in the terminal differentiation of the epidermis, so their alteration or absence causes a keratinization disorder and/or an increase in skin fragility. Thanks to genetic analyses, we have been able to understand the physiopathology of numerous genodermatoses and we have become closer to diagnosing many others. In the not-too-distant future, biomolecular techniques may foreseeably help us prevent and treat these processes, which include skin diseases as serious as epidermolysis bullosa or epidermolytic hyperkeratosis. In this article, we will study the most recent biomolecular findings referring to keratinization and epidermal disorders, mentioning the altered genes and/ or the defective proteins that cause them.
近年来，许多遗传性皮肤病的致病基因已被发现。这些基因编码参与表皮终末分化的不同蛋白质，因此它们的改变或缺失会导致角化障碍和/或皮肤脆性增加。借助基因分析，我们已经能够了解众多遗传性皮肤病的生理病理学，并且在诊断许多其他遗传性皮肤病方面也更进了一步。在不远的将来，生物分子技术有望帮助我们预防和治疗这些疾病过程，其中包括像大疱性表皮松解症或表皮松解性角化过度症这样严重的皮肤病。在本文中，我们将研究与角化和表皮疾病相关的最新生物分子研究结果，提及导致这些疾病的突变基因和/或缺陷蛋白。
