Sakiyama Tomo, Kubo Akiharu
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
J Dermatol. 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219.
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.
遗传性掌跖角化病（PPK）是一组异质性疾病，其特征为手掌和足底皮肤过度角化。遗传性PPK根据角化过度性皮损的临床模式分为四组——弥漫性、局限性、条纹状和点状PPK。每组包括无相关特征的单纯性PPK以及伴有指甲、牙齿和其他器官受累等相关特征的PPK。PPK一直通过基于临床的描述性系统进行分类。近年来，许多PPK的致病基因已被鉴定出来，这证实和/或重新排列了传统分类。现在，通过传统形态学分类和基因检测相结合来诊断PPK很重要。在本综述中，我们聚焦于无相关特征的PPK，并介绍其形态学特征、遗传背景以及过去十年的新发现。
