Christiano A M
Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
Trends Genet. 1997 Jun;13(6):227-33. doi: 10.1016/S0168-9525(97)01104-9.
A clinically and genetically heterogeneous group of disorders, known collectively as the palmoplantar keratodermas, are unified by the phenotypic characteristic of a thickening of the skin over the palms and soles. Although spectacular progress has been made in understanding the basis of many genodermatoses, the genetic defects causing many of the keratodermas are still largely unknown. These unusual phenotypes are beginning to capture the attention of investigators in epidermal biology, and several compelling lines of evidence point to the cornified cell envelope and structural components of the desmosome as potential underlying targets of disease. It is anticipated that understanding the molecular basis of the keratodermas will underscore the importance of the integrity of the cell envelope and the desmosome, and provide new insights into the mechanisms of epidermal differentiation and related disorders.
一组在临床和遗传上具有异质性的疾病，统称为掌跖角化病，其共同的表型特征是手掌和脚底皮肤增厚。尽管在理解许多遗传性皮肤病的基础方面已经取得了显著进展，但导致许多角化病的基因缺陷在很大程度上仍然未知。这些不同寻常的表型开始引起表皮生物学研究人员的关注，几条令人信服的证据表明，角质化细胞包膜和桥粒的结构成分是潜在的疾病靶点。预计了解角化病的分子基础将突出细胞包膜和桥粒完整性的重要性，并为表皮分化及相关疾病的机制提供新的见解。
