Keratin disease
Encyclopedia
A keratin disease is a genetic disorder of one of the keratin
genes.
An example is monilethrix
.
The first to be identified was epidermolysis bullosa simplex
.
Examples include:
Keratin
Keratin refers to a family of fibrous structural proteins. Keratin is the key of structural material making up the outer layer of human skin. It is also the key structural component of hair and nails...
genes.
An example is monilethrix
Monilethrix
Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace and the Greek word for hair ....
.
The first to be identified was epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.-Subtypes:...
.
Examples include:
| Name | Skin/hair | Keratin |
|---|---|---|
| Epidermolysis bullosa simplex Epidermolysis bullosa simplex Epidermolysis bullosa simplex is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.-Subtypes:... |
skin | KRT5, KRT14 |
| Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis, is a rare skin disease in the ichthyosis family affecting around 1 in 250,000 people.It involves the clumping of keratin filaments.-Presentation:At birth, affected babies are called "enfant... |
skin | KRT1, KRT10 |
| Ichthyosis bullosa of Siemens Ichthyosis bullosa of Siemens Ichthyosis bullosa of Siemens is a rare skin disorder which is a type of familial, autosomal dominant ichthyosis. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa... |
skin | KRT2A |
| Palmoplantar keratoderma Palmoplantar keratoderma Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soleAutosomal recessive and dominant, X-linked, and acquired forms have all been described.There are also acquired forms of the condition.... |
skin | KRT1, KRT9, KRT16 |
| Pachyonychia congenita Pachyonychia congenita Pachyonychia congenita, also called Jadassohn-Lewandowski Syndrome or simply pachyonychia, is an autosomal dominant skin disorder.-Symptoms:Common symptoms include:*Excess keratin in nail beds and thickening of the nails... |
skin | KRT6A, KRT6B, KRT16, KRT17 |
| White sponge nevus White sponge nevus White sponge nevus , also known as Cannon's disease, Hereditary leukokeratosis of mucosa and White sponge nevus of Cannon, is an autosomal dominant skin condition... |
skin | KRT4, KRT13 |
| Steatocystoma multiplex Steatocystoma multiplex Steatocystoma multiplex is a benign, autosomal dominant congenital condition resulting in multiple cysts on a person's body.... |
skin | KRT17 |
| Monilethrix Monilethrix Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace and the Greek word for hair .... |
hair | KRT81 KRT81 Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.-Further reading:... , KRT83 KRT83 Keratin 83, also known as KRT83, is a protein which humans is encoded by the KRT83 gene.- Function :The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails... , KRT86 KRT86 Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.-Further reading:... |
| Meesman juvenile epithelial corneal dystrophy | cornea | KRT3, KRT12 |
| Familial cirrhosis Familial cirrhosis Familial cirrhosis is a form of cirrhosis that is a keratin disease.It is associated with KRT8 and KRT18.... |
liver | KRT8, KRT18 |