Keratin Disease
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 |
Diagnosis
See also
- List of cutaneous conditions caused by mutations in keratins