List of cutaneous conditions caused by mutations in keratins

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

Cutaneous conditions caused by mutations in keratin proteins
Defective keratin typeCondition(s)
1Epidermolytic 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
3Meesmann corneal dystrophy
4White sponge nevus
5Epidermolysis bullosa simplex
Dowling–Degos' disease
Olmsted syndrome
6aPachyonychia congenita type I
6bPachyonychia congenita type II
7
8
9Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
10Epidermolytic hyperkeratosis
Ichthyosis with confetti
Ichthyosis hystrix
11
12Meesmann corneal dystrophy
13White sponge nevus
14Epidermolysis bullosa simplex
Naegeli–Franceschetti–Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Olmsted syndrome
15
16Pachyonychia congenita type I
17Pachyonychia congenita type II
Steatocystoma multiplex
Vellus hair cyst
81Monilethrix
83Monilethrix
85Pure hair–nail type of ectodermal dysplasia
86Monilethrix
See also: List of cutaneous conditions
This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.

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:

Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins
Defective proteinConditions(s)
LoricrinVohwinkel syndrome[nb 1]
Progressive symmetric erythrokeratodermia
FilaggrinIchthyosis vulgaris
Atopic dermatitis

Footnotes
  1. Vohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity.

See also

References
    • Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 1-4160-2999-0.
    • James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
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