Article
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
The British journal of dermatology - 1 Apr 2010
Bolling M C, Bladergroen R S, van Steensel M A M, Willemsen M, Jonkman M F, van Geel M
Abstract excerpt
BACKGROUND: Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins 1 and 10. Classical EI is clinically characterized by severe neonatal erythroderma, blistering and fragile skin in infancy, quickly subsiding with subsequent...
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