Bonifas J M, Matsumura K, Chen M A, Berth-Jones J, Hutchison P E, Zloczower M, Fritsch P O, Epstein E H
Department of Dermatology, University of California School of Medicine, San Francisco.
J Invest Dermatol. 1994 Oct;103(4):474-7. doi: 10.1111/1523-1747.ep12395570.
The hereditary palmoplantar keratodermas are a heterogeneous group of diseases unified by thickening of the stratum corneum of the palms and soles with consequent painful fissuring, discomfort on pressure, and resultant disability. One of the histologic patterns underlying palmoplantar hyperkeratosis is that of epidermolytic hyperkeratosis. Because that histologic pattern has been found in its generalized form to be due to keratin gene mutations, we assessed the inheritance of the form localized to the palms and soles. In each of two families studied, the mutant gene causing the disease is linked strongly to the chromosome 17 cluster of genes encoding type I keratins, and mutations are present in the conserved helix initiation region of keratin 9 in affected members of both kindreds. These data, as well as those generated recently by others, indicate that keratin gene mutations may underlie not only the generalized phenotype but also this more localized phenotype of epidermolytic hyperkeratosis and suggest one mechanism by which skin diseases can achieve their characteristic localization.
遗传性掌跖角化病是一组异质性疾病，其共同特征是手掌和足底角质层增厚，继而出现疼痛性皲裂、受压不适及由此导致的功能障碍。掌跖角化过度的一种组织学模式是表皮松解性角化过度。由于已发现这种组织学模式的全身性形式是由角蛋白基因突变引起的，我们评估了局限于手掌和足底的这种形式的遗传方式。在研究的两个家族中，导致该病的突变基因均与17号染色体上编码Ⅰ型角蛋白的基因簇紧密连锁，并且两个家族的患病成员中角蛋白9的保守螺旋起始区域均存在突变。这些数据以及其他人最近得出的数据表明，角蛋白基因突变不仅可能是全身性表皮松解性角化过度表型的基础，也可能是这种更局限的表皮松解性角化过度表型的基础，并提示了皮肤疾病实现其特征性定位的一种机制。
