Keratin disease
(Redirected from Keratin defect)
| Keratin disease | |
|---|---|
| Other names | Keratinopathy |
 | |
| Keratin (high molecular weight) in bile duct cell and oval cells of mouse liver. | |
| Specialty | Dermatology |
A keratin disease is a genetic disorder of one of the keratin genes.[citation needed] An example is monilethrix.[1] The first to be identified was epidermolysis bullosa simplex.[2][3]
Pathology
[edit]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
[edit]References
[edit]- ^ Corden LD, McLean WH (December 1996). "Human keratin diseases: hereditary fragility of specific epithelial tissues". Exp. Dermatol. 5 (6): 297–307. doi:10.1111/j.1600-0625.1996.tb00133.x. PMID 9028791.
- ^ Smith F (2003). "The molecular genetics of keratin disorders". Am J Clin Dermatol. 4 (5): 347–64. doi:10.2165/00128071-200304050-00005. PMID 12688839.
- ^ Irvine AD, McLean WH (May 1999). "Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation". Br. J. Dermatol. 140 (5): 815–28. doi:10.1046/j.1365-2133.1999.02810.x. PMID 10354017.