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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 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
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:

Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins
Defective protein Conditions(s)
Loricrin Vohwinkel syndrome[nb 1]
Progressive symmetric erythrokeratodermia
Filaggrin Ichthyosis 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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