Keratin disease
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Medical condition
| Keratin disease | |
|---|---|
| Other names | Keratinopathy |
| 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
Examples of keratin disease include:
| Name | Skin/hair | Keratin |
|---|---|---|
| Epidermolysis bullosa simplex | skin | KRT14
|
| Epidermolytic hyperkeratosis | skin | KRT10
|
| Ichthyosis bullosa of Siemens | skin | KRT2A
|
| Palmoplantar keratoderma | skin | KRT16
|
| Pachyonychia congenita | skin | KRT17
|
| White sponge nevus | skin | KRT13
|
| Steatocystoma multiplex | skin | KRT17
|
| Monilethrix | hair | KRT81, KRT83, KRT86 |
Meesman juvenile epithelial corneal dystrophy
|
cornea | KRT12
|
| Familial cirrhosis | liver | KRT18
|
See also
References
| ||
|---|---|---|
AR | ||
XR | ||
| Ungrouped |
| |
and related
- EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP
- JEB
- JEB-H
- Mitis
- Generalized atrophic
- JEB-PA
- DEB
- DDEB
- RDEB
- related: Costello syndrome
- Kindler syndrome
- Laryngoonychocutaneous syndrome
- Skin fragility syndrome
- Naegeli syndrome/Dermatopathia pigmentosa reticularis
- Hay–Wells syndrome
- Hypohidrotic ectodermal dysplasia
- Focal dermal hypoplasia
- Ellis–van Creveld syndrome
- Rapp–Hodgkin syndrome/Hay–Wells syndrome
keratinopathy
| PPK |
|
|---|---|
| Other |
anomalies
| Midline |
|
|---|---|
| Nevus |
|
| Other/ungrouped |
|
Congenital malformations and deformations of skin appendages | |
|---|---|
| Nail disease | |
| Hair disease |
|
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