Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding
keratin 5Keratin, type II cytoskeletal 5 also known as KRT5 is a protein that in human is encoded by the KRT5 gene.- Function :The protein encoded by this gene is a member of the keratin gene family...
or
keratin 14Keratin, type I cytoskeletal 14 also known as cytokeratin-14 or keratin-14 is a protein that in humans is encoded by the KRT14 gene....
.
Blister formation of EBS occurs at the
dermoepidermal junctionThe dermoepidermal junction is the area of tissue that joins the epidermal and the dermal layers of the skin. The basal cells in the stratum basale of the epidermis connect to the basement membrane by hemidesmosomes; the cells of the papillary layer of the dermis are attached to the basement...
. Sometimes EBS is called
epidermolytic.
Subtypes
Epidermolysis bullosa simplex may be divided into multiple types:
| OMIM |
Name |
Locus |
Gene |
|
|
| epidermolysis bullosa simplex with migratory circinate erythema
| 12q13
| KRT5>
|
|
| epidermolysis bullosa simplex with mottled pigmentation; EBS-MPEpidermolysis bullosa simplex with mottled pigmentation is a skin condition resulting from a recurrent mutation in KRT14....
| 12q13
| KRT5>
|
|
| epidermolysis bullosa simplex, autosomal recessive
| 17q12-q21
| KRT14>
|
|
| epidermolysis bullosa simplex, Koebner type; EBS2Generalized epidermolysis bullosa simplex is a skin condition that presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present....
| 17q12-q21, 12q13
| KRT5, KRT14>
|
|
| epidermolysis bullosa simplex, Weber-Cockayne typeLocalized epidermolysis bullosa simplex is a skin condition characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.- References :...
| 17q12-q21, 17q11-qter, 12q13
| KRT5, KRT14>
|
|
| epidermolysis bullosa herpetiformis, Dowling-Meara typeEpidermolysis bullosa herpetiformis is a skin condition that presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy....
| 17q12-q21, 12q13
| KRT5, KRT14>
|
|
| epidermolysis bullosa simplex with muscular dystrophyEpidermolysis bullosa simplex with muscular dystrophy is a rare clinical entity, and is the first and only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized...
| 8q24
| PLEC1>
|
|
| epidermolysis bullosa simplex with pyloric atresia
| 8q24
| PLEC1>
|
|
| epidermolysis bullosa simplex, Ogna typeEpidermolysis bullosa simplex of Ogna is a skin condition with onset in infancy, presenting with seasonal blistering on acral areas during summer months....
| 8q24
| PLEC1>
External links
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GFDL.
