Bale S J, Compton J G, DiGiovanna J J
Genetic Studies Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.
Semin Dermatol. 1993 Sep;12(3):202-9.
Epidermolytic hyperkeratosis (EHK) is a congenital autosomal dominant ichthyosis. The disorder is characterized by blistering, especially at birth and during childhood, and hyperkeratosis. EHK presents striking clinical heterogeneity, particularly regarding extent of body surface involvement, quality of scale, presence or absence of erythroderma, and palmar/plantar involvement. Histological examination of hematoxylin-eosin stained sections of EHK skin show a tremendously thickened stratum corneum and vacuolar degeneration of the upper epidermis, leading to the term "epidermolytic hyperkeratosis". Genetic studies have revealed that defects in either keratin 1 or keratin 10 are responsible for the disorder in several patients, and provide a means for prenatal diagnosis in at-risk pregnancies in these families. An understanding of the relationship of keratin structure to its function in vivo in human epidermis may lead to the development of novel therapies for EHK.
表皮松解性角化过度症（EHK）是一种先天性常染色体显性鱼鳞病。该疾病的特征是水疱形成，尤其是在出生时和儿童期，以及角化过度。EHK表现出显著的临床异质性，特别是在体表受累范围、鳞屑性质、红皮病的有无以及掌跖受累方面。对EHK皮肤苏木精-伊红染色切片的组织学检查显示角质层极度增厚，表皮上层出现空泡变性，由此产生了“表皮松解性角化过度症”这一术语。基因研究表明，角蛋白1或角蛋白10的缺陷是导致部分患者患病的原因，并为这些家族中高危妊娠的产前诊断提供了一种方法。了解角蛋白结构与其在人类表皮体内功能之间的关系可能会为EHK开发出新的治疗方法。
