Steijlen P M, Kremer H, Vakilzadeh F, Happle R, Lavrijsen A P, Ropers H H, Mariman E C
Department of Dermatology, University Hospital Nijmegen, The Netherlands.
J Invest Dermatol. 1994 Sep;103(3):282-5. doi: 10.1111/1523-1747.ep12394335.
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic hyperkeratosis are observed. We used linkage analysis to test whether keratin gene mutations might underlie both diseases. This analysis showed linkage of both disorders with the region of chromosome 12 in which the keratin type II gene cluster is located. The keratin type I gene cluster on chromosome 17 is excluded. These data, combined with clinical observations, strongly suggest that the genes coding for keratin 1 or keratin 2e, both expressed in the suprabasal compartment of the epidermis and located in the type II gene cluster, are candidate genes for ichthyosis bullosa of Siemens and ichthyosis exfoliativa.
西门斯大疱性鱼鳞病是一种常染色体显性疾病，其特征为轻度角化过度和水疱形成。常染色体显性剥脱性鱼鳞病是一种最近描述的疾病，其临床特征与西门斯大疱性鱼鳞病相似，但与西门斯大疱性鱼鳞病不同的是，未观察到典型的表皮松解性角化过度的组织学特征。我们采用连锁分析来检测角蛋白基因突变是否可能是这两种疾病的病因。该分析显示这两种疾病均与12号染色体上Ⅱ型角蛋白基因簇所在区域连锁。17号染色体上的Ⅰ型角蛋白基因簇被排除。这些数据与临床观察结果相结合，强烈提示编码角蛋白1或角蛋白2e的基因是西门斯大疱性鱼鳞病和剥脱性鱼鳞病的候选基因，这两种角蛋白均在表皮基底层上方区域表达且位于Ⅱ型基因簇中。
