Keratin disease

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]

Examples 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


  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.

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