Keratin disease
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]
| Keratin disease | |
|---|---|
| Other names | Keratinopathy |
| Specialty | Dermatology |
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
gollark: Because the built-in thing is insecure and bad.
gollark: Meanwhile, an external box like an RPi (£50 or so including basic accessories, it's fine) will get support for... probably 10 years or so? And you can swap it separately. And you can be sure of exactly what's running on there. And it has the same security as a standard computery device, i.e. not great but workable.
gollark: *Some* apparently randomly connect to unsecured wireless networks if available.
gollark: Originally, yes, they were made for live TV.
gollark: Many do some kind of automatic content recognition thing on the stuff on their screen.
References
- 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.
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