Betlloch Isabel, Lucas Costa Anna, Mataix Javier, Pérez-Crespo Maria, Ballester Irene
Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain.
Pediatr Dermatol. 2009 Jul-Aug;26(4):489-91. doi: 10.1111/j.1525-1470.2009.00969.x.
Bullous congenital ichthyosiform erythroderma is an unusual type of inherited ichthyosis by mutations in the genes that encode K1 and K10. We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported. This new mutation contributes to add to the catalog of bullous congenital ichthyosiform erythroderma mutations known.
大疱性先天性鱼鳞病样红皮病是一种由编码K1和K10的基因突变引起的罕见遗传性鱼鳞病。我们报告了一例具有大疱性先天性鱼鳞病样红皮病典型临床和组织病理学表现的女孩病例，该女孩被发现KRT10基因在第445位发生了新的突变，即Glu445Lys，影响了KRT10蛋白的2B区域，即杆状结构域的末端，在该区域已报道了许多其他与遗传性皮肤病相关的角蛋白突变。这一新突变有助于丰富已知的大疱性先天性鱼鳞病样红皮病突变目录。
