Department of Dermatology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan, China.
Clin Exp Dermatol. 2013 Mar;38(2):147-50. doi: 10.1111/j.1365-2230.2012.04426.x. Epub 2012 Jul 25.
Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share the characteristic of impaired epidermal differentiation, resulting in prominent palmoplantar hyperkeratosis. Molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPKs over the past two decades, and thus a pathophysiological classificaiton seems more reasonable. Today PPK can be classified based on defects in keratins, loricrin, desmosomes, connexins and cathepsins. In this report, we describe a 22-year-old man who had been born a collodion baby, and later developed diffuse PPK with pseudoainhum and generalized ichthyosis. His mother and grandmother had similar characteristics. Direct sequencing of genomic DNA identified a frameshift insertion mutation (730insG) in the loricrin gene. This family had the typical presentation of loricrin keratoderma. It also indicates that collodion baby may be the first presentation in patients with loricrin keratoderma.
遗传性掌跖角化病（PPK）是一组具有临床和遗传异质性的遗传性皮肤病，其共同特征是表皮分化受损，导致明显的掌跖过度角化。在过去的二十年中，分子遗传学分析帮助确定了越来越多种遗传性 PPK 的潜在遗传缺陷，因此病理生理学分类似乎更为合理。如今，PPK 可基于角蛋白、兜甲蛋白、桥粒、连接蛋白和组织蛋白酶的缺陷进行分类。在本报告中，我们描述了一名 22 岁的男性，他出生时为胶样婴儿，后来发展为弥漫性 PPK 伴假性并指畸形和全身性鱼鳞病。他的母亲和祖母也有类似的特征。对基因组 DNA 的直接测序发现兜甲蛋白基因存在移码插入突变（730insG）。该家系具有典型的兜甲蛋白角化病表现。这也表明胶样婴儿可能是兜甲蛋白角化病患者的首发表现。
