keratin disease
{{Infobox medical condition (new)
| name =
| 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
Examples of keratin disease include:
class="wikitable" |
Name
! Skin/hair ! Keratin |
---|
Epidermolysis bullosa simplex
| skin |
Epidermolytic hyperkeratosis
| skin |
Ichthyosis bullosa of Siemens
| skin | KRT2A |
Palmoplantar keratoderma
| skin |
Pachyonychia congenita
| skin |
White sponge nevus
| skin |
Steatocystoma multiplex
| skin | KRT17 |
Monilethrix
| hair |
Meesman juvenile epithelial corneal dystrophy
| cornea |
Familial cirrhosis
| liver |
See also
References
{{reflist}}
{{Cytoskeletal defects}}
{{Congenital malformations and deformations of integument}}
{{Congenital malformations and deformations of skin appendages}}
{{Genodermatoses-stub}}