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词条 Keratin disease
释义

  1. Pathology

  2. Diagnosis

  3. See also

  4. References

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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]

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

Diagnosis

{{Empty section|date=May 2018}}

See also

  • List of cutaneous conditions caused by mutations in keratins

References

1. ^{{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|url=}}
2. ^{{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|url=}}
3. ^{{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|url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=1999&volume=140&issue=5&spage=815|archive-url=https://archive.today/20130105065505/http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=1999&volume=140&issue=5&spage=815|dead-url=yes|archive-date=2013-01-05}}
{{Cytoskeletal defects}}{{Congenital malformations and deformations of integument}}{{Congenital malformations and deformations of skin appendages}}{{cutaneous-condition-stub}}

1 : Cytoskeletal defects

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