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List of cutaneous conditions caused by mutations in keratins

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There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease.

Defective keratin type	Condition(s)
1	Epidermolytic hyperkeratosis
Ichthyosis hystrix of Curth–Macklin
Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma)
Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
2 (2e)	Ichthyosis bullosa of Siemens
3	Meesmann corneal dystrophy
4	White sponge nevus
5	Epidermolysis bullosa simplex
Dowling–Degos' disease
Olmsted syndrome
6a	Pachyonychia congenita type I
6b	Pachyonychia congenita type II
7
8
9	Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
10	Epidermolytic hyperkeratosis
Ichthyosis with confetti
Ichthyosis hystrix
11
12	Meesmann corneal dystrophy
13	White sponge nevus
14	Epidermolysis bullosa simplex
Naegeli–Franceschetti–Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Olmsted syndrome
15
16	Pachyonychia congenita type I
17	Pachyonychia congenita type II
Steatocystoma multiplex
Vellus hair cyst
81	Monilethrix
82	Alopecia areata
83	Monilethrix
85	Pure hair–nail type of ectodermal dysplasia
86	Monilethrix

Of note, other structural proteins in the epidermis of the skin that are closely related to keratins may also cause disease if mutated. Examples include:

Defective protein	Conditions(s)
Loricrin	Vohwinkel syndromeVohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity.
Progressive symmetric erythrokeratodermia
Filaggrin	Ichthyosis vulgaris
Atopic dermatitis

Footnotes

References

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