Keratin disease
Medical condition
Keratin disease | |
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Other names | Keratinopathy |
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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 |
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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
References
- ^ 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.
- ^ 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.
- ^ 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.
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Cytoskeletal defects
Myofilament |
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Other |
Kinesin | |
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Dynein | |
Other |
Related topics: Cytoskeletal proteins
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