Epidermolysis bullosa simplex
Encyclopedia
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5
Keratin 5
Keratin, 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 14
Keratin 14
Keratin, 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 junction
Dermoepidermal junction
The 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:
|
| epidermolysis bullosa simplex with migratory circinate erythema
| 12q13
| KRT5> |
| epidermolysis bullosa simplex with mottled pigmentation; EBS-MP
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis 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; EBS2
Generalized epidermolysis bullosa simplex
Generalized 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 type
Localized epidermolysis bullosa simplex
Localized 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 type
Epidermolysis bullosa herpetiformis
Epidermolysis 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 dystrophy
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis 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 type
Epidermolysis bullosa simplex of Ogna
Epidermolysis bullosa simplex of Ogna is a skin condition with onset in infancy, presenting with seasonal blistering on acral areas during summer months....


| 8q24
| PLEC1>
OMIM Name Locus Gene

External links

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