Keratin disease

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

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

• List of cutaneous conditions caused by mutations in keratins

References

1. 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.
2. 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.
3. 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.