Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the
lamina lucidaThe lamina lucida is a component of the basement membrane which is found between the epithelium and underlying connective tissue...
of the
basement membraneThe basement membrane is a thin sheet of fibers that underlies the epithelium, which lines the cavities and surfaces of organs including skin, or the endothelium, which lines the interior surface of blood vessels.- Composition :...
zone.
Types include:
| OMIM |
Name |
Locus |
Gene |
|
|
| epidermolysis bullosa junctionalis with pyloric atresiaJunctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction....
| 17q11-qter, 2q31.1
| ITGB4Integrin, beta 4 also known as CD104 , is a human gene.-Interactions:ITGB4 has been shown to interact with Collagen, type XVII, alpha 1, EIF6 and Erbin.-Further reading:...
, ITGA6Integrin alpha-6 is a protein that in humans is encoded by the ITGA6 gene.-Interactions:ITGA6 has been shown to interact with TSPAN4 and GIPC1.-External links:* Info with links in the...
>
|
|
| epidermolysis bullosa, junctional, Herlitz typeJunctional epidermolysis bullosa gravis is the most lethal type of epidermolysis bullosa, a skin condition in which most patients do not survive infancy, characterized by blistering at birth with severe and clinically...
| 18q11.2, 1q32, 1q25-q31
| LAMA3, LAMB3, LAMC2>
|
|
| epidermolysis bullosa, junctional, non-Herlitz type (Generalized atrophic benign epidermolysis bullosaGeneralized atrophic benign epidermolysis bullosa is a skin condition that is characterized by onset at birth, generalized blisters and atrophy, mucosal involvement, and thickened, dystrophic, or absent nails....
, Mitis junctional epidermolysis bullosaMitis junctional epidermolysis bullosa is a skin condition characterized by scalp and nail lesions, also associated with periorificial nonhealing erosions. Mitis junctional epidermolysis bullosa is most commonly seem in children between the ages of 4 and 10 years old....
)
| 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3
| LAMA3, LAMB3, LAMC2, COL17A1, ITGB4Integrin, beta 4 also known as CD104 , is a human gene.-Interactions:ITGB4 has been shown to interact with Collagen, type XVII, alpha 1, EIF6 and Erbin.-Further reading:...
>
Another form,
cicatricial junctional epidermolysis bullosaCicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring.It was characterized in 1985.It is not included in OMIM....
, is not included in OMIM.
External links
The source of this article is
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GFDL.
