Keratin disease

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## Overview

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A keratin disease (or keratinopathy) 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]

Examples 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

## References

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1. ↑ Corden LD, McLean WH (1996). "Human keratin diseases: hereditary fragility of specific epithelial tissues". Exp. Dermatol. 5 (6): 297–307. PMID 9028791. Unknown parameter `|month=` ignored (help)
2. ↑ Smith F (2003). "The molecular genetics of keratin disorders". Am J Clin Dermatol. 4 (5): 347–64. PMID 12688839.
3. ↑ Irvine AD, McLean WH (1999). "Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation". Br. J. Dermatol. 140 (5): 815–28. PMID 10354017. Unknown parameter `|month=` ignored (help)

Template:Scleroprotein disease Template:Congenital malformations and deformations of integument

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Congenital malformations and deformations of skin appendages (Q84, 757.4-757.5)

Nail disease|

Anonychia * Leukonychia * Pachyonychia congenita/Onychauxis * Koilonychia

Hair disease|

keratin disease (Monilethrix) * Sabinas brittle hair syndrome * Pili annulati * Uncombable hair syndrome

see also non-congenital, neoplasia

Template:WH Template:WS
*[v]: View this template
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*[e]: Edit this template