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.
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:
Defective protein | Conditions(s) |
---|---|
Loricrin | Vohwinkel syndrome[nb 1] Progressive symmetric erythrokeratodermia |
Filaggrin | Ichthyosis vulgaris Atopic dermatitis |
Footnotes
- Vohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity.
See also
- List of keratins expressed in the human integumentary system
- List of cutaneous conditions caused by problems with junctional proteins
- List of target antigens in pemphigoid
- List of target antigens in pemphigus
- Cutaneous conditions with immunofluorescence findings
- List of cutaneous conditions
- List of genes mutated in cutaneous conditions
- List of histologic stains that aid in diagnosis of cutaneous conditions
- Keratoderma
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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