Bale S J, DiGiovanna J J
Genetic Studies Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Adv Dermatol. 1997;12:99-113; discussion 114.
Genetic methods (both statistical and laboratory based), along with close clinical scrutiny, have led to the recent discovery that abnormal keratin genes underlie several disorders of cornification (Table 3). The ability to classify diseases based on the specific underlying gene mutation has now become a reality (e.g., the ability to distinguish IBS from EHK and to correlate palmoplantar hyperkeratosis in EHK with keratin 1 mutations vs. the lack of palmoplantar hyperkeratosis with keratin 10 mutations). Understanding how specific keratin mutations cause their associated clinical phenotypes will lead to better appreciation of the function of KIFs in epidermis in normal and disease states.
遗传学方法（包括基于统计学和实验室的方法），以及密切的临床检查，促成了最近一项发现：异常的角蛋白基因是几种角化障碍的基础（表3）。基于特定潜在基因突变对疾病进行分类的能力现已成为现实（例如，区分单纯性大疱性表皮松解症与表皮松解性角化过度症的能力，以及将表皮松解性角化过度症中的掌跖角化过度与角蛋白1突变相关联，而掌跖角化过度缺乏则与角蛋白10突变相关联）。了解特定的角蛋白突变如何导致其相关的临床表型，将有助于更好地理解角蛋白中间丝在正常和疾病状态下表皮中的功能。
