Keratin disease
Keratin Disease
Keratin disease (pronounced: /kɛrətɪn/), also known as keratinopathy, is a group of genetic disorders characterized by abnormalities in the keratin proteins, which are essential components of hair, nails, and the outer layer of skin.
Etymology
The term "keratin" originates from the Greek word "κέρας" (kéras), meaning "horn". This is in reference to the protein's primary role in the formation of hair, nails, and the outer layer of skin, which are all structures that are horn-like in nature.
Types of Keratin Disease
There are several types of keratin diseases, each associated with mutations in different keratin genes. These include:
- Epidermolysis bullosa simplex: This condition is caused by mutations in the KRT5 or KRT14 genes, which produce keratins found in the skin's outer layer.
- Pachyonychia congenita: This disorder is caused by mutations in the KRT6A, KRT6B, KRT16, or KRT17 genes, which produce keratins found in the skin, hair, and nails.
- Ectodermal dysplasia: This group of disorders can be caused by mutations in various keratin genes, affecting the development of structures such as hair, nails, teeth, and sweat glands.
Symptoms
Symptoms of keratin diseases can vary widely, depending on the specific disorder and the keratin genes involved. Common symptoms can include fragile skin that blisters easily, thickened nails, and sparse hair.
Treatment
Treatment for keratin diseases is typically supportive, aimed at managing symptoms and preventing complications. This can include wound care for skin blisters, physical therapy for mobility issues, and cosmetic treatments for hair and nail abnormalities.
See Also
External links
- Medical encyclopedia article on Keratin disease
- Wikipedia's article - Keratin disease
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