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]
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 |
Genodermatosis |
| ||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Developmental anomalies |
|
Congenital malformations and deformations of skin appendages | |
---|---|
Nail disease | |
Hair disease |