keratin disease

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| synonym = Keratinopathy

| image =Keratin.jpg

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| caption = Keratin (high molecular weight) in bile duct cell and oval cells of mouse liver.

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| specialty = Dermatology

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A keratin disease is a genetic disorder of one of the keratin genes.{{citation needed|date=August 2019}} An example is monilethrix.{{cite journal |vauthors=Corden LD, McLean WH |title=Human keratin diseases: hereditary fragility of specific epithelial tissues |journal=Exp. Dermatol. |volume=5 |issue=6 |pages=297–307 |date=December 1996 |pmid=9028791 |doi= 10.1111/j.1600-0625.1996.tb00133.x}} The first to be identified was epidermolysis bullosa simplex.{{cite journal |author=Smith F |title=The molecular genetics of keratin disorders |journal=Am J Clin Dermatol |volume=4 |issue=5 |pages=347–64 |year=2003 |pmid=12688839 |doi= 10.2165/00128071-200304050-00005}}{{cite journal |vauthors=Irvine AD, McLean WH |title=Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation |journal=Br. J. Dermatol. |volume=140 |issue=5 |pages=815–28 |date=May 1999 |pmid=10354017 |doi= 10.1046/j.1365-2133.1999.02810.x|doi-access=free }}

Pathology

See also

References

{{reflist}}

{{Cytoskeletal defects}}

{{Congenital malformations and deformations of integument}}

{{Congenital malformations and deformations of skin appendages}}

Category:Cytoskeletal defects

{{Genodermatoses-stub}}