Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, ERN-Skin, London, United Kingdom; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, United Kingdom.
Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, ERN-Skin, London, United Kingdom; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, United Kingdom; Department of Dermatology, Venereology, and Andrology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
J Invest Dermatol. 2020 Nov;140(11):2111-2113. doi: 10.1016/j.jid.2020.06.031.
Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology.
Mohamad 等人（2020 年）描述了 SERPINA12 的功能丧失突变是弥漫性、跨梯度掌跖角化病（PPK）的一个原因。这种疾病与其他由蛋白酶过度活跃引起的 PPK 具有相似的临床特征，包括红斑、脱皮和遇水时加重。了解这种疾病可能进一步揭示蛋白酶及其抑制剂在表皮生理学中的作用。
