Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta 104, I-00167 Rome, Italy.
Br J Dermatol. 2010 Jun;162(6):1384-7. doi: 10.1111/j.1365-2133.2010.09665.x. Epub 2010 Mar 10.
Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively. Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins. However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.
表皮松解性鱼鳞病（EI；MIM 113800），以前称为大疱性先天性鱼鳞样红皮病或表皮松解性角化过度症，是一种罕见的、临床表现多样的角化缺陷，其特征为全身性红斑、糜烂、鳞屑和容易破裂的水疱，这些水疱在生命后期变得不那么频繁，而角化过度则增加。EI 是由 KRT1 或 KRT10 中的显性突变引起的，分别编码角蛋白 1（K1）和角蛋白 10（K10）。通常，突变是错义取代到蛋白质的高度保守的α-螺旋杆结构域中。然而，已经描述了三个由于 KRT10 缺失突变而作为隐性性状传递的 EI 近亲系。
