Keratin disease explained
A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix.[1] The first to be identified was epidermolysis bullosa simplex.[2] [3]
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
Notes and References
- Corden LD, McLean WH . Human keratin diseases: hereditary fragility of specific epithelial tissues . Exp. Dermatol. . 5 . 6 . 297–307 . December 1996 . 9028791 . 10.1111/j.1600-0625.1996.tb00133.x.
- Smith F . The molecular genetics of keratin disorders . Am J Clin Dermatol . 4 . 5 . 347–64 . 2003 . 12688839 . 10.2165/00128071-200304050-00005.
- Irvine AD, McLean WH . Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation . Br. J. Dermatol. . 140 . 5 . 815–28 . May 1999 . 10354017 . 10.1046/j.1365-2133.1999.02810.x. free .
