Keratin disease

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List of terms related to Keratin disease

Overview[edit | edit source]

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

References[edit | edit source]

↑ Corden LD, McLean WH (1996). "Human keratin diseases: hereditary fragility of specific epithelial tissues". Exp. Dermatol. 5 (6): 297–307. PMID 9028791. Unknown parameter |month= ignored (help)
↑ Smith F (2003). "The molecular genetics of keratin disorders". Am J Clin Dermatol. 4 (5): 347–64. PMID 12688839.
↑ Irvine AD, McLean WH (1999). "Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation". Br. J. Dermatol. 140 (5): 815–28. PMID 10354017. Unknown parameter |month= ignored (help)

Template:Scleroprotein disease Template:Congenital malformations and deformations of integument

Template:WH Template:WS

[pmid9028791-1] Corden LD, McLean WH (1996). "Human keratin diseases: hereditary fragility of specific epithelial tissues". Exp. Dermatol. 5 (6): 297–307. PMID 9028791. Unknown parameter |month= ignored (help)

[pmid12688839-2] Smith F (2003). "The molecular genetics of keratin disorders". Am J Clin Dermatol. 4 (5): 347–64. PMID 12688839.

[pmid10354017-3] Irvine AD, McLean WH (1999). "Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation". Br. J. Dermatol. 140 (5): 815–28. PMID 10354017. Unknown parameter |month= ignored (help)

[1]

[2]

[3]

v t e Congenital malformations and deformations of skin appendages (Q84, 757.4-757.5)
Nail disease	Anonychia · Leukonychia · Pachyonychia congenita/Onychauxis · Koilonychia
Hair disease	keratin disease (Monilethrix) · Sabinas brittle hair syndrome · Pili annulati · Uncombable hair syndrome
see also non-congenital, neoplasia