A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix. The first to be identified was epidermolysis bullosa simplex.
Pathology Examples of keratin disease include: Name Skin/hair Keratin Epidermolysis bullosa simplex skin KRT5, KRT14 Epidermolytic hyperkeratosis skin KRT1, KRT10 Ichthyosis bullosa of Siemens skin KRT2A Palmoplantar keratoderma skin KRT1, KRT9, KRT16 Pachyonychia congenita skin KRT6A, KRT6B, KRT16, KRT17 White sponge nevus skin KRT4, KRT13 Steatocystoma multiplex skin KRT17 Monilethrix hair KRT81, KRT83, KRT86 Meesman juvenile epithelial corneal dystrophy cornea KRT3, KRT12 Familial cirrhosis liver KRT8, KRT18
See also List of cutaneous conditions caused by mutations in keratins
References