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.
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:
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|+ Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins | |
| 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
See also
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- 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
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References
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- {{cite book |author=Bolognia, Jean L.|title=Dermatology |publisher=Mosby |location=St. Louis |year=2007 |isbn=1-4160-2999-0 |display-authors=etal}}
- {{cite book |author=James, William D.|title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders Elsevier |year=2006 |isbn=0-7216-2921-0 |display-authors=etal}}
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