The Keratins and Their Disorders

The article discussed diseases caused by mutations in genes encoding keratin intermediate filaments (IF), which led to a loss of structural integrity in cells expressing those keratins. This resulted in cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some tissues. The disorders included a variety of phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erythroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa.